Canonical Allele Identifier: CA7649294

Gene: HCN4

Linked Data

• ClinVar Variation Id: 392647
• ClinVar RCV Id: RCV001433552 ; RCV001696842
• dbSNP Id: rs202001597
• ExAC: 15:73622067 G / A
• gnomAD v2: 15-73622067-G-A
• gnomAD v3: 15-73329726-G-A
• gnomAD v4: 15-73329726-G-A
• MyVariant Identifiers: chr15:g.73622067G>A (hg19) ; chr15:g.73329726G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73329726G>A , CM000677.2:g.73329726G>A	GRCh38
NC_000015.9:g.73622067G>A , CM000677.1:g.73622067G>A	GRCh37
NC_000015.8:g.71409120G>A	NCBI36
NG_009063.1:g.44539C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.1437C>T MANE Select	ENSP00000261917.3:p.Ile479=
ENST00000261917.3:c.1437C>T	ENSP00000261917.3:p.Ile479=
NM_005477.2:c.1437C>T	NP_005468.1:p.Ile479=
XM_011521148.1:c.219C>T	XP_011519450.1:p.Ile73=
XM_011521148.2:c.219C>T	XP_011519450.1:p.Ile73=
NM_005477.3:c.1437C>T MANE Select	NP_005468.1:p.Ile479=