Canonical Allele Identifier: CA301949

Gene: HCN4

Linked Data

• ClinVar Variation Id: 190769
• ClinVar RCV Id: RCV000170928 ; RCV000619178 ; RCV000711883 ; RCV001085024 ; RCV001115974
• dbSNP Id: rs62641690
• ExAC: 15:73617693 G / T
• gnomAD v2: 15-73617693-G-T
• gnomAD v3: 15-73325352-G-T
• gnomAD v4: 15-73325352-G-T
• MyVariant Identifiers: chr15:g.73617693G>T (hg19) ; chr15:g.73325352G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73325352G>T , CM000677.2:g.73325352G>T	GRCh38
NC_000015.9:g.73617693G>T , CM000677.1:g.73617693G>T	GRCh37
NC_000015.8:g.71404746G>T	NCBI36
NG_009063.1:g.48913C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.1683C>A MANE Select	ENSP00000261917.3:p.Gly561=
ENST00000261917.3:c.1683C>A	ENSP00000261917.3:p.Gly561=
NM_005477.2:c.1683C>A	NP_005468.1:p.Gly561=
XM_011521148.1:c.465C>A	XP_011519450.1:p.Gly155=
XM_011521148.2:c.465C>A	XP_011519450.1:p.Gly155=
NM_005477.3:c.1683C>A MANE Select	NP_005468.1:p.Gly561=