Canonical Allele Identifier: CA6345653

Gene: HEPACAM

Linked Data

• ClinVar Variation Id: 303329
• ClinVar RCV Id: RCV000383269 ; RCV002056176
• dbSNP Id: rs544709540
• ExAC: 11:124793230 C / T
• gnomAD v2: 11-124793230-C-T
• gnomAD v3: 11-124923334-C-T
• gnomAD v4: 11-124923334-C-T
• MyVariant Identifiers: chr11:g.124793230C>T (hg19) ; chr11:g.124923334C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124923334C>T , CM000673.2:g.124923334C>T	GRCh38
NC_000011.9:g.124793230C>T , CM000673.1:g.124793230C>T	GRCh37
NC_000011.8:g.124298440C>T	NCBI36
NG_029603.1:g.18079G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703807.1:c.803+6G>A	ENSP00000515485.1:n.803+6G>A
ENST00000298251.5:c.803+6G>A MANE Select	ENSP00000298251.4:n.803+6G>A
ENST00000298251.4:c.803+6G>A	ENSP00000298251.4:n.803+6G>A
NM_152722.4:c.803+6G>A	NP_689935.2:n.803+6G>A
XM_005271449.1:c.803+6G>A	XP_005271506.1:n.803+6G>A
XM_006718786.1:c.803+6G>A	XP_006718849.1:n.803+6G>A
XM_011542669.1:c.803+6G>A	XP_011540971.1:n.803+6G>A
XM_005271449.2:c.803+6G>A	XP_005271506.1:n.803+6G>A
XM_017017361.1:c.803+6G>A	XP_016872850.1:n.803+6G>A
XR_001748429.2:n.325-20066C>T
NM_152722.5:c.803+6G>A MANE Select	NP_689935.2:n.803+6G>A