Canonical Allele Identifier: CA358172022

Gene: MFSD8

Linked Data

• ClinVar Variation Id: 1995503
• ClinVar RCV Id: RCV002819326
• MyVariant Identifiers: chr4:g.128843093C>G (hg19) ; chr4:g.127921938C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921938C>G , CM000666.2:g.127921938C>G	GRCh38
NC_000004.11:g.128843093C>G , CM000666.1:g.128843093C>G	GRCh37
NC_000004.10:g.129062543C>G	NCBI36
NG_008657.1:g.49047G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1024G>C	ENSP00000296468.3:p.Gly342Arg
ENST00000509826.2:c.*257G>C	ENSP00000421176.2:n.*257G>C
ENST00000513559.6:c.742G>C	ENSP00000425000.2:p.Gly248Arg
ENST00000515130.6:c.864-167G>C	ENSP00000493056.1:n.864-167G>C
ENST00000641025.1:c.999-167G>C	ENSP00000493346.1:n.999-167G>C
ENST00000641092.1:c.798-167G>C	ENSP00000493392.1:n.798-167G>C
ENST00000641133.1:c.*338G>C	ENSP00000493192.1:n.*338G>C
ENST00000641146.1:n.890G>C
ENST00000641147.1:c.574G>C	ENSP00000493133.1:p.Gly192Arg
ENST00000641178.1:c.889G>C	ENSP00000492989.1:p.Gly297Arg
ENST00000641186.1:c.910G>C	ENSP00000493347.1:p.Gly304Arg
ENST00000641228.1:c.798-167G>C	ENSP00000493194.1:n.798-167G>C
ENST00000641332.1:c.*164-167G>C	ENSP00000493397.1:n.*164-167G>C
ENST00000641340.1:c.*232-167G>C	ENSP00000493191.1:n.*232-167G>C
ENST00000641388.1:n.350-167G>C
ENST00000641393.1:c.574G>C	ENSP00000493197.1:p.Gly192Arg
ENST00000641397.1:c.684-167G>C	ENSP00000493406.1:n.684-167G>C
ENST00000641413.1:c.28-167G>C
ENST00000641434.1:c.1024G>C	ENSP00000493279.1:p.Gly342Arg
ENST00000641464.1:c.*257G>C	ENSP00000493438.1:n.*257G>C
ENST00000641482.1:c.999-167G>C	ENSP00000493277.1:n.999-167G>C
ENST00000641508.1:c.*257G>C	ENSP00000493209.1:n.*257G>C
ENST00000641509.1:c.709G>C	ENSP00000493459.1:p.Gly237Arg
ENST00000641538.1:c.735G>C
ENST00000641590.1:c.885-167G>C	ENSP00000493132.1:n.885-167G>C
ENST00000641658.1:c.*189G>C	ENSP00000492987.1:n.*189G>C
ENST00000641686.2:c.1024G>C MANE Select	ENSP00000493218.2:p.Gly342Arg
ENST00000641690.1:c.823G>C	ENSP00000492966.1:p.Gly275Arg
ENST00000641742.1:c.*189G>C	ENSP00000493315.1:n.*189G>C
ENST00000641748.1:c.1024G>C	ENSP00000493330.1:p.Gly342Arg
ENST00000641753.1:c.851G>C
ENST00000641774.1:c.*276G>C	ENSP00000492960.1:n.*276G>C
ENST00000641830.1:c.335-167G>C
ENST00000641843.1:c.*164-167G>C	ENSP00000493174.1:n.*164-167G>C
ENST00000641869.1:c.304-167G>C
ENST00000641870.1:c.*164-167G>C	ENSP00000493044.1:n.*164-167G>C
ENST00000641882.1:c.*189G>C	ENSP00000493301.1:n.*189G>C
ENST00000641928.1:c.*232-167G>C	ENSP00000493418.1:n.*232-167G>C
ENST00000641949.1:c.554-1102G>C	ENSP00000492891.1:n.554-1102G>C
ENST00000642012.1:n.888G>C
ENST00000642034.1:c.885-167G>C	ENSP00000493285.1:n.885-167G>C
ENST00000642042.1:c.1024G>C	ENSP00000493260.1:p.Gly342Arg
ENST00000642078.1:c.*164-167G>C	ENSP00000492885.1:n.*164-167G>C
ENST00000296468.7:c.1024G>C	ENSP00000296468.3:p.Gly342Arg
ENST00000504126.1:n.52G>C
ENST00000505284.5:n.894-167G>C
ENST00000509826.1:c.*257G>C	ENSP00000421176.1:n.*257G>C
ENST00000513559.5:c.889G>C	ENSP00000425000.1:p.Gly297Arg
ENST00000515130.5:n.1445-167G>C
NM_152778.2:c.1024G>C	NP_689991.1:p.Gly342Arg
XM_005262893.1:c.1024G>C	XP_005262950.1:p.Gly342Arg
XM_005262896.1:c.877G>C	XP_005262953.1:p.Gly293Arg
XM_005262897.1:c.823G>C	XP_005262954.1:p.Gly275Arg
XM_005262898.2:c.999-167G>C	XP_005262955.1:n.999-167G>C
XM_011531830.1:c.910G>C	XP_011530132.1:p.Gly304Arg
XM_011531831.1:c.709G>C	XP_011530133.1:p.Gly237Arg
XM_011531832.1:c.885-167G>C	XP_011530134.1:n.885-167G>C
XR_938717.1:n.1101G>C
NM_001363520.1:c.823G>C	NP_001350449.1:p.Gly275Arg
NM_001363521.1:c.709G>C	NP_001350450.1:p.Gly237Arg
XM_005262898.3:c.999-167G>C	XP_005262955.1:n.999-167G>C
XM_017007989.1:c.798-167G>C	XP_016863478.1:n.798-167G>C
XM_024453981.1:c.889G>C	XP_024309749.1:p.Gly297Arg
XM_024453982.1:c.775G>C	XP_024309750.1:p.Gly259Arg
XM_024453983.1:c.574G>C	XP_024309751.1:p.Gly192Arg
XR_001741194.1:n.1076-167G>C
XR_001741195.1:n.962-167G>C
XR_001741196.1:n.875-167G>C
XR_001741197.1:n.956G>C
XR_001741198.2:n.931-167G>C
XR_001741199.1:n.931-167G>C
XR_938717.2:n.1101G>C
NM_001363520.2:c.823G>C	NP_001350449.1:p.Gly275Arg
NM_001363521.2:c.709G>C	NP_001350450.1:p.Gly237Arg
NM_001371590.1:c.889G>C	NP_001358519.1:p.Gly297Arg
NM_001371591.1:c.1024G>C	NP_001358520.1:p.Gly342Arg
NM_001371592.1:c.1030G>C	NP_001358521.1:p.Gly344Arg
NM_001371593.1:c.910G>C	NP_001358522.1:p.Gly304Arg
NM_001371594.1:c.877G>C	NP_001358523.1:p.Gly293Arg
NM_001371595.1:c.742G>C	NP_001358524.1:p.Gly248Arg
NM_001371596.2:c.1024G>C MANE Select	NP_001358525.1:p.Gly342Arg
NM_152778.3:c.1024G>C	NP_689991.1:p.Gly342Arg
NM_152778.4:c.1024G>C	NP_689991.1:p.Gly342Arg