Canonical Allele Identifier: CA358171188

Gene: MFSD8

Linked Data

• gnomAD v4: 4-127921633-A-G
• MyVariant Identifiers: chr4:g.128842788A>G (hg19) ; chr4:g.127921633A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921633A>G , CM000666.2:g.127921633A>G	GRCh38
NC_000004.11:g.128842788A>G , CM000666.1:g.128842788A>G	GRCh37
NC_000004.10:g.129062238A>G	NCBI36
NG_008657.1:g.49352T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1241T>C	ENSP00000296468.3:p.Ile414Thr
ENST00000509826.2:c.*562T>C	ENSP00000421176.2:n.*562T>C
ENST00000513559.6:c.959T>C	ENSP00000425000.2:p.Ile320Thr
ENST00000515130.6:c.*126T>C	ENSP00000493056.1:n.*126T>C
ENST00000641025.1:c.*126T>C	ENSP00000493346.1:n.*126T>C
ENST00000641092.1:c.*126T>C	ENSP00000493392.1:n.*126T>C
ENST00000641133.1:c.*555T>C	ENSP00000493192.1:n.*555T>C
ENST00000641146.1:n.1107T>C
ENST00000641147.1:c.791T>C	ENSP00000493133.1:p.Ile264Thr
ENST00000641178.1:c.1106T>C	ENSP00000492989.1:p.Ile369Thr
ENST00000641186.1:c.1127T>C	ENSP00000493347.1:p.Ile376Thr
ENST00000641228.1:c.*126T>C	ENSP00000493194.1:n.*126T>C
ENST00000641332.1:c.*302T>C	ENSP00000493397.1:n.*302T>C
ENST00000641340.1:c.*370T>C	ENSP00000493191.1:n.*370T>C
ENST00000641388.1:n.488T>C
ENST00000641393.1:c.791T>C	ENSP00000493197.1:p.Ile264Thr
ENST00000641397.1:c.*126T>C	ENSP00000493406.1:n.*126T>C
ENST00000641413.1:c.166T>C
ENST00000641434.1:c.1241T>C	ENSP00000493279.1:p.Ile414Thr
ENST00000641464.1:c.*474T>C	ENSP00000493438.1:n.*474T>C
ENST00000641482.1:c.*126T>C	ENSP00000493277.1:n.*126T>C
ENST00000641508.1:c.*474T>C	ENSP00000493209.1:n.*474T>C
ENST00000641509.1:c.926T>C	ENSP00000493459.1:p.Ile309Thr
ENST00000641590.1:c.*126T>C	ENSP00000493132.1:n.*126T>C
ENST00000641658.1:c.*406T>C	ENSP00000492987.1:n.*406T>C
ENST00000641686.2:c.1241T>C MANE Select	ENSP00000493218.2:p.Ile414Thr
ENST00000641690.1:c.1040T>C	ENSP00000492966.1:p.Ile347Thr
ENST00000641742.1:c.*406T>C	ENSP00000493315.1:n.*406T>C
ENST00000641748.1:c.1241T>C	ENSP00000493330.1:p.Ile414Thr
ENST00000641753.1:c.1068T>C
ENST00000641774.1:c.*493T>C	ENSP00000492960.1:n.*493T>C
ENST00000641830.1:c.473T>C
ENST00000641843.1:c.*302T>C	ENSP00000493174.1:n.*302T>C
ENST00000641869.1:c.442T>C
ENST00000641870.1:c.*302T>C	ENSP00000493044.1:n.*302T>C
ENST00000641882.1:c.*406T>C	ENSP00000493301.1:n.*406T>C
ENST00000641928.1:c.*370T>C	ENSP00000493418.1:n.*370T>C
ENST00000641949.1:c.554-797T>C	ENSP00000492891.1:n.554-797T>C
ENST00000642012.1:n.1105T>C
ENST00000642034.1:c.*126T>C	ENSP00000493285.1:n.*126T>C
ENST00000642042.1:c.1241T>C	ENSP00000493260.1:p.Ile414Thr
ENST00000642078.1:c.*302T>C	ENSP00000492885.1:n.*302T>C
ENST00000296468.7:c.1241T>C	ENSP00000296468.3:p.Ile414Thr
ENST00000504126.1:n.269T>C
ENST00000513559.5:c.1106T>C	ENSP00000425000.1:p.Ile369Thr
ENST00000515130.5:n.1583T>C
NM_152778.2:c.1241T>C	NP_689991.1:p.Ile414Thr
XM_005262893.1:c.1241T>C	XP_005262950.1:p.Ile414Thr
XM_005262896.1:c.1094T>C	XP_005262953.1:p.Ile365Thr
XM_005262897.1:c.1040T>C	XP_005262954.1:p.Ile347Thr
XM_005262898.2:c.*126T>C	XP_005262955.1:n.*126T>C
XM_011531830.1:c.1127T>C	XP_011530132.1:p.Ile376Thr
XM_011531831.1:c.926T>C	XP_011530133.1:p.Ile309Thr
XM_011531832.1:c.*126T>C	XP_011530134.1:n.*126T>C
XR_938717.1:n.1318T>C
NM_001363520.1:c.1040T>C	NP_001350449.1:p.Ile347Thr
NM_001363521.1:c.926T>C	NP_001350450.1:p.Ile309Thr
XM_005262898.3:c.*126T>C	XP_005262955.1:n.*126T>C
XM_017007989.1:c.*126T>C	XP_016863478.1:n.*126T>C
XM_024453981.1:c.1106T>C	XP_024309749.1:p.Ile369Thr
XM_024453982.1:c.992T>C	XP_024309750.1:p.Ile331Thr
XM_024453983.1:c.791T>C	XP_024309751.1:p.Ile264Thr
XR_001741194.1:n.1214T>C
XR_001741195.1:n.1100T>C
XR_001741196.1:n.1013T>C
XR_001741197.1:n.1173T>C
XR_001741198.2:n.1069T>C
XR_001741199.1:n.1069T>C
XR_938717.2:n.1318T>C
NM_001363520.2:c.1040T>C	NP_001350449.1:p.Ile347Thr
NM_001363521.2:c.926T>C	NP_001350450.1:p.Ile309Thr
NM_001371590.1:c.1106T>C	NP_001358519.1:p.Ile369Thr
NM_001371591.1:c.1241T>C	NP_001358520.1:p.Ile414Thr
NM_001371592.1:c.1247T>C	NP_001358521.1:p.Ile416Thr
NM_001371593.1:c.1127T>C	NP_001358522.1:p.Ile376Thr
NM_001371594.1:c.1094T>C	NP_001358523.1:p.Ile365Thr
NM_001371595.1:c.959T>C	NP_001358524.1:p.Ile320Thr
NM_001371596.2:c.1241T>C MANE Select	NP_001358525.1:p.Ile414Thr
NM_152778.3:c.1241T>C	NP_689991.1:p.Ile414Thr
NM_152778.4:c.1241T>C	NP_689991.1:p.Ile414Thr