Canonical Allele Identifier: CA7648800

Gene: HCN4

Linked Data

• ClinVar Variation Id: 1343014
• ClinVar RCV Id: RCV001843616 ; RCV001885389 ; RCV002334718
• dbSNP Id: rs147982868
• ExAC: 15:73614853 G / A
• gnomAD v2: 15-73614853-G-A
• gnomAD v4: 15-73322512-G-A
• MyVariant Identifiers: chr15:g.73614853G>A (hg19) ; chr15:g.73322512G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322512G>A , CM000677.2:g.73322512G>A	GRCh38
NC_000015.9:g.73614853G>A , CM000677.1:g.73614853G>A	GRCh37
NC_000015.8:g.71401906G>A	NCBI36
NG_009063.1:g.51753C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.3581C>T MANE Select	ENSP00000261917.3:p.Pro1194Leu
ENST00000261917.3:c.3581C>T	ENSP00000261917.3:p.Pro1194Leu
NM_005477.2:c.3581C>T	NP_005468.1:p.Pro1194Leu
XM_011521148.1:c.2363C>T	XP_011519450.1:p.Pro788Leu
XM_011521148.2:c.2363C>T	XP_011519450.1:p.Pro788Leu
NM_005477.3:c.3581C>T MANE Select	NP_005468.1:p.Pro1194Leu