Canonical Allele Identifier: CA357205000

Gene: GC

Linked Data

• MyVariant Identifiers: chr4:g.72622596T>G (hg19) ; chr4:g.71756879T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71756879T>G , CM000666.2:g.71756879T>G	GRCh38
NC_000004.11:g.72622596T>G , CM000666.1:g.72622596T>G	GRCh37
NC_000004.10:g.72841460T>G	NCBI36
NG_012837.2:g.53642A>C
NG_012837.3:g.53642A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.867A>C MANE Select	ENSP00000273951.8:p.Leu289Phe
ENST00000273951.12:c.867A>C	ENSP00000273951.8:p.Leu289Phe
ENST00000503472.5:n.751A>C
ENST00000504199.5:c.924A>C	ENSP00000421725.1:p.Leu308Phe
ENST00000509740.5:c.867A>C	ENSP00000422664.1:p.Leu289Phe
ENST00000513476.5:c.867A>C	ENSP00000426683.1:p.Leu289Phe
NM_000583.3:c.867A>C	NP_000574.2:p.Leu289Phe
NM_001204306.1:c.867A>C	NP_001191235.1:p.Leu289Phe
NM_001204307.1:c.924A>C	NP_001191236.1:p.Leu308Phe
XM_006714177.2:c.867A>C	XP_006714240.1:p.Leu289Phe
XM_006714177.3:c.867A>C	XP_006714240.1:p.Leu289Phe
NM_000583.4:c.867A>C MANE Select	NP_000574.2:p.Leu289Phe