Canonical Allele Identifier: CA357204994

Gene: GC

Linked Data

• gnomAD v4: 4-71756877-G-A
• MyVariant Identifiers: chr4:g.72622594G>A (hg19) ; chr4:g.71756877G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71756877G>A , CM000666.2:g.71756877G>A	GRCh38
NC_000004.11:g.72622594G>A , CM000666.1:g.72622594G>A	GRCh37
NC_000004.10:g.72841458G>A	NCBI36
NG_012837.2:g.53644C>T
NG_012837.3:g.53644C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.869C>T MANE Select	ENSP00000273951.8:p.Ser290Phe
ENST00000273951.12:c.869C>T	ENSP00000273951.8:p.Ser290Phe
ENST00000503472.5:n.753C>T
ENST00000504199.5:c.926C>T	ENSP00000421725.1:p.Ser309Phe
ENST00000509740.5:c.869C>T	ENSP00000422664.1:p.Ser290Phe
ENST00000513476.5:c.869C>T	ENSP00000426683.1:p.Ser290Phe
NM_000583.3:c.869C>T	NP_000574.2:p.Ser290Phe
NM_001204306.1:c.869C>T	NP_001191235.1:p.Ser290Phe
NM_001204307.1:c.926C>T	NP_001191236.1:p.Ser309Phe
XM_006714177.2:c.869C>T	XP_006714240.1:p.Ser290Phe
XM_006714177.3:c.869C>T	XP_006714240.1:p.Ser290Phe
NM_000583.4:c.869C>T MANE Select	NP_000574.2:p.Ser290Phe