Canonical Allele Identifier: CA2955425
Gene: GC HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.71752606G>A
GRCh37 chr4:g.72618323G>A
Revel Score:
ENST00000273951 (MANE Select) 0.017
ENST00000504199 0.017
ENST00000513476 0.017
gnomAD v2:
4:72618323 G / A
gnomAD v3:
4:71752606 G / A
gnomAD v4:
chr4-71752606-G-A
Joint Max Group AF 0.00002979 (EAS)
Exomes Max Group AF 0.00002004 (EAS)
dbSNP:
4588
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71752606G>A , CM000666.2:g.71752606G>A GRCh38
NC_000004.11:g.72618323G>A , CM000666.1:g.72618323G>A GRCh37
NC_000004.10:g.72837187G>A NCBI36
NG_012837.2:g.57915C>T
NG_012837.3:g.57915C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.1307C>T MANE Select ENSP00000273951.8:p.Thr436Met
ENST00000273951.12:c.1307C>T ENSP00000273951.8:p.Thr436Met
ENST00000503364.5:n.68+1805C>T
ENST00000503472.5:n.1191C>T
ENST00000504199.5:c.1364C>T ENSP00000421725.1:p.Thr455Met
ENST00000509740.5:c.*130C>T ENSP00000422664.1:n.*130C>T
ENST00000513476.5:c.1307C>T ENSP00000426683.1:p.Thr436Met
NM_000583.3:c.1307C>T NP_000574.2:p.Thr436Met
NM_001204306.1:c.1307C>T NP_001191235.1:p.Thr436Met
NM_001204307.1:c.1364C>T NP_001191236.1:p.Thr455Met
XM_006714177.2:c.1262+1805C>T XP_006714240.1:n.1262+1805C>T
XM_006714177.3:c.1262+1805C>T XP_006714240.1:n.1262+1805C>T
NM_000583.4:c.1307C>T MANE Select NP_000574.2:p.Thr436Met
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