Canonical Allele Identifier: CA10638212

Gene: HEPACAM

Linked Data

• ClinVar Variation Id: 303325
• ClinVar RCV Id: RCV000358121 ; RCV000994749 ; RCV001193311 ; RCV001252515 ; RCV003930281
• dbSNP Id: rs536963649
• gnomAD v2: 11-124791213-C-T
• gnomAD v3: 11-124921317-C-T
• gnomAD v4: 11-124921317-C-T
• MyVariant Identifiers: chr11:g.124791213C>T (hg19) ; chr11:g.124921317C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124921317C>T , CM000673.2:g.124921317C>T	GRCh38
NC_000011.9:g.124791213C>T , CM000673.1:g.124791213C>T	GRCh37
NC_000011.8:g.124296423C>T	NCBI36
NG_029603.1:g.20096G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703807.1:c.1228G>A	ENSP00000515485.1:p.Ala410Thr
ENST00000298251.5:c.1072G>A MANE Select	ENSP00000298251.4:p.Ala358Thr
ENST00000298251.4:c.1072G>A	ENSP00000298251.4:p.Ala358Thr
NM_152722.4:c.1072G>A	NP_689935.2:p.Ala358Thr
XM_005271449.1:c.1069G>A	XP_005271506.1:p.Ala357Thr
XM_006718786.1:c.1093G>A	XP_006718849.1:p.Ala365Thr
XM_011542669.1:c.1090G>A	XP_011540971.1:p.Ala364Thr
XM_005271449.2:c.1069G>A	XP_005271506.1:p.Ala357Thr
XM_017017361.1:c.1228G>A	XP_016872850.1:p.Ala410Thr
XR_001748429.2:n.325-22083C>T
NM_152722.5:c.1072G>A MANE Select	NP_689935.2:p.Ala358Thr