Canonical Allele Identifier: CA357201269

Gene: GC

Linked Data

• gnomAD v4: 4-71752615-G-A
• MyVariant Identifiers: chr4:g.72618332G>A (hg19) ; chr4:g.71752615G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71752615G>A , CM000666.2:g.71752615G>A	GRCh38
NC_000004.11:g.72618332G>A , CM000666.1:g.72618332G>A	GRCh37
NC_000004.10:g.72837196G>A	NCBI36
NG_012837.2:g.57906C>T
NG_012837.3:g.57906C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.1298C>T MANE Select	ENSP00000273951.8:p.Ala433Val
ENST00000273951.12:c.1298C>T	ENSP00000273951.8:p.Ala433Val
ENST00000503364.5:n.68+1796C>T
ENST00000503472.5:n.1182C>T
ENST00000504199.5:c.1355C>T	ENSP00000421725.1:p.Ala452Val
ENST00000509740.5:c.*121C>T	ENSP00000422664.1:n.*121C>T
ENST00000513476.5:c.1298C>T	ENSP00000426683.1:p.Ala433Val
NM_000583.3:c.1298C>T	NP_000574.2:p.Ala433Val
NM_001204306.1:c.1298C>T	NP_001191235.1:p.Ala433Val
NM_001204307.1:c.1355C>T	NP_001191236.1:p.Ala452Val
XM_006714177.2:c.1262+1796C>T	XP_006714240.1:n.1262+1796C>T
XM_006714177.3:c.1262+1796C>T	XP_006714240.1:n.1262+1796C>T
NM_000583.4:c.1298C>T MANE Select	NP_000574.2:p.Ala433Val