Canonical Allele Identifier: CA2955534

Gene: GC

Linked Data

• dbSNP Id: rs755441985
• ExAC: 4:72622503 G / A
• gnomAD v2: 4-72622503-G-A
• gnomAD v3: 4-71756786-G-A
• gnomAD v4: 4-71756786-G-A
• MyVariant Identifiers: chr4:g.72622503G>A (hg19) ; chr4:g.71756786G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71756786G>A , CM000666.2:g.71756786G>A	GRCh38
NC_000004.11:g.72622503G>A , CM000666.1:g.72622503G>A	GRCh37
NC_000004.10:g.72841367G>A	NCBI36
NG_012837.2:g.53735C>T
NG_012837.3:g.53735C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.960C>T MANE Select	ENSP00000273951.8:p.Leu320=
ENST00000273951.12:c.960C>T	ENSP00000273951.8:p.Leu320=
ENST00000503472.5:n.844C>T
ENST00000504199.5:c.1017C>T	ENSP00000421725.1:p.Leu339=
ENST00000509740.5:c.960C>T	ENSP00000422664.1:p.Leu320=
ENST00000513476.5:c.960C>T	ENSP00000426683.1:p.Leu320=
NM_000583.3:c.960C>T	NP_000574.2:p.Leu320=
NM_001204306.1:c.960C>T	NP_001191235.1:p.Leu320=
NM_001204307.1:c.1017C>T	NP_001191236.1:p.Leu339=
XM_006714177.2:c.960C>T	XP_006714240.1:p.Leu320=
XM_006714177.3:c.960C>T	XP_006714240.1:p.Leu320=
NM_000583.4:c.960C>T MANE Select	NP_000574.2:p.Leu320=