Canonical Allele Identifier: CA2670940867

Gene: GC

Linked Data

• gnomAD v4: 4-71741850-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71741850C>T , CM000666.2:g.71741850C>T	GRCh38
NC_000004.11:g.72607567C>T , CM000666.1:g.72607567C>T	GRCh37
NC_000004.10:g.72826431C>T	NCBI36
NG_012837.2:g.68671G>A
NG_012837.3:g.68671G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.*46G>A MANE Select	ENSP00000273951.8:n.*46G>A
ENST00000273951.12:c.*46G>A	ENSP00000273951.8:n.*46G>A
ENST00000503364.5:n.144G>A
ENST00000503472.5:n.1355G>A
ENST00000504199.5:c.*46G>A	ENSP00000421725.1:n.*46G>A
ENST00000509740.5:c.*294G>A	ENSP00000422664.1:n.*294G>A
ENST00000513476.5:c.1416G>A	ENSP00000426683.1:p.Gln472=
NM_000583.3:c.*46G>A	NP_000574.2:n.*46G>A
NM_001204306.1:c.*46G>A	NP_001191235.1:n.*46G>A
NM_001204307.1:c.*46G>A	NP_001191236.1:n.*46G>A
XM_006714177.2:c.*60G>A	XP_006714240.1:n.*60G>A
XM_006714177.3:c.*60G>A	XP_006714240.1:n.*60G>A
NM_000583.4:c.*46G>A MANE Select	NP_000574.2:n.*46G>A