Canonical Allele Identifier: CA2955542

Gene: GC

Linked Data

• dbSNP Id: rs148501037
• ExAC: 4:72622541 C / T
• gnomAD v2: 4-72622541-C-T
• gnomAD v3: 4-71756824-C-T
• gnomAD v4: 4-71756824-C-T
• MyVariant Identifiers: chr4:g.72622541C>T (hg19) ; chr4:g.71756824C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71756824C>T , CM000666.2:g.71756824C>T	GRCh38
NC_000004.11:g.72622541C>T , CM000666.1:g.72622541C>T	GRCh37
NC_000004.10:g.72841405C>T	NCBI36
NG_012837.2:g.53697G>A
NG_012837.3:g.53697G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.922G>A MANE Select	ENSP00000273951.8:p.Val308Ile
ENST00000273951.12:c.922G>A	ENSP00000273951.8:p.Val308Ile
ENST00000503472.5:n.806G>A
ENST00000504199.5:c.979G>A	ENSP00000421725.1:p.Val327Ile
ENST00000509740.5:c.922G>A	ENSP00000422664.1:p.Val308Ile
ENST00000513476.5:c.922G>A	ENSP00000426683.1:p.Val308Ile
NM_000583.3:c.922G>A	NP_000574.2:p.Val308Ile
NM_001204306.1:c.922G>A	NP_001191235.1:p.Val308Ile
NM_001204307.1:c.979G>A	NP_001191236.1:p.Val327Ile
XM_006714177.2:c.922G>A	XP_006714240.1:p.Val308Ile
XM_006714177.3:c.922G>A	XP_006714240.1:p.Val308Ile
NM_000583.4:c.922G>A MANE Select	NP_000574.2:p.Val308Ile