Canonical Allele Identifier: CA439799422

Gene: GC

Linked Data

• dbSNP Id: rs1742766812
• gnomAD v3: 4-71783995-C-T
• gnomAD v4: 4-71783995-C-T
• MyVariant Identifiers: chr4:g.72649712C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71783995C>T , CM000666.2:g.71783995C>T	GRCh38
NC_000004.11:g.72649712C>T , CM000666.1:g.72649712C>T	GRCh37
NC_000004.10:g.72868576C>T	NCBI36
NG_012837.2:g.26526G>A
NG_012837.3:g.26526G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.24G>A MANE Select	ENSP00000273951.8:p.Leu8=
ENST00000273951.12:c.24G>A	ENSP00000273951.8:p.Leu8=
ENST00000504199.5:c.81G>A	ENSP00000421725.1:p.Leu27=
ENST00000506245.1:c.24G>A	ENSP00000426718.1:p.Leu8=
ENST00000509740.5:c.24G>A	ENSP00000422664.1:p.Leu8=
ENST00000513476.5:c.24G>A	ENSP00000426683.1:p.Leu8=
NM_000583.3:c.24G>A	NP_000574.2:p.Leu8=
NM_001204306.1:c.24G>A	NP_001191235.1:p.Leu8=
NM_001204307.1:c.81G>A	NP_001191236.1:p.Leu27=
XM_006714177.2:c.24G>A	XP_006714240.1:p.Leu8=
XM_006714177.3:c.24G>A	XP_006714240.1:p.Leu8=
NM_000583.4:c.24G>A MANE Select	NP_000574.2:p.Leu8=