Canonical Allele Identifier: CA204546

Gene: C6

Linked Data

• ClinVar Variation Id: 208565
• ClinVar RCV Id: RCV001852530
• dbSNP Id: rs142881576
• ExAC: 5:41159254 G / A
• gnomAD v2: 5-41159254-G-A
• gnomAD v3: 5-41159152-G-A
• gnomAD v4: 5-41159152-G-A
• MyVariant Identifiers: chr5:g.41159254G>A (hg19) ; chr5:g.41159152G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41159152G>A , CM000667.2:g.41159152G>A	GRCh38
NC_000005.9:g.41159254G>A , CM000667.1:g.41159254G>A	GRCh37
NC_000005.8:g.41195011G>A	NCBI36
NG_011582.1:g.107287C>T , LRG_29:g.107287C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000337836.10:c.1786C>T MANE Select	ENSP00000338861.5:p.Arg596Ter
ENST00000263413.7:c.1786C>T	ENSP00000263413.3:p.Arg596Ter
ENST00000337836.9:c.1786C>T	ENSP00000338861.5:p.Arg596Ter
ENST00000511470.1:n.330C>T
NM_000065.3:c.1786C>T	NP_000056.2:p.Arg596Ter
NM_001115131.2:c.1786C>T	NP_001108603.2:p.Arg596Ter
XM_005248357.1:c.1813C>T	XP_005248414.1:p.Arg605Ter
XM_006714496.2:c.1870C>T	XP_006714559.1:p.Arg624Ter
XM_011514114.1:c.1870C>T	XP_011512416.1:p.Arg624Ter
XM_011514115.1:c.1843C>T	XP_011512417.1:p.Arg615Ter
XM_011514116.1:c.1843C>T	XP_011512418.1:p.Arg615Ter
XM_011514117.1:c.1843C>T	XP_011512419.1:p.Arg615Ter
XM_011514118.1:c.1843C>T	XP_011512420.1:p.Arg615Ter
XM_011514119.1:c.1813C>T	XP_011512421.1:p.Arg605Ter
XM_011514120.1:c.1426C>T	XP_011512422.1:p.Arg476Ter
XM_011514121.1:c.886C>T	XP_011512423.1:p.Arg296Ter
XR_925944.1:n.812-2161G>A
XR_925945.1:n.319-2161G>A
XR_925946.1:n.770-2161G>A
XR_925948.1:n.812-42124G>A
XR_925949.1:n.1833-2161G>A
XM_005248357.3:c.1813C>T	XP_005248414.1:p.Arg605Ter
XM_006714496.4:c.1870C>T	XP_006714559.1:p.Arg624Ter
XM_011514114.3:c.1870C>T	XP_011512416.1:p.Arg624Ter
XM_011514115.3:c.1843C>T	XP_011512417.1:p.Arg615Ter
XM_011514116.3:c.1843C>T	XP_011512418.1:p.Arg615Ter
XM_011514117.3:c.1843C>T	XP_011512419.1:p.Arg615Ter
XM_011514118.3:c.1843C>T	XP_011512420.1:p.Arg615Ter
XM_011514119.3:c.1813C>T	XP_011512421.1:p.Arg605Ter
XM_011514121.3:c.886C>T	XP_011512423.1:p.Arg296Ter
XM_017009818.2:c.1843C>T	XP_016865307.1:p.Arg615Ter
XM_017009819.2:c.1399C>T	XP_016865308.1:p.Arg467Ter
XR_001742650.1:n.812-2161G>A
XR_001742651.1:n.325-2161G>A
NM_000065.4:c.1786C>T	NP_000056.2:p.Arg596Ter
NM_001115131.3:c.1786C>T	NP_001108603.2:p.Arg596Ter
NM_000065.5:c.1786C>T MANE Select	NP_000056.2:p.Arg596Ter
NM_001115131.4:c.1786C>T	NP_001108603.2:p.Arg596Ter