Canonical Allele Identifier: CA235703

Gene: HCN4

Linked Data

• ClinVar Variation Id: 190782
• ClinVar RCV Id: RCV000170941 ; RCV000223954 ; RCV002453581
• dbSNP Id: rs200546024
• ExAC: 15:73615912 G / A
• gnomAD v2: 15-73615912-G-A
• gnomAD v3: 15-73323571-G-A
• gnomAD v4: 15-73323571-G-A
• MyVariant Identifiers: chr15:g.73615912G>A (hg19) ; chr15:g.73323571G>A (hg38)
• PubMed: PMID:22840528 ; PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323571G>A , CM000677.2:g.73323571G>A	GRCh38
NC_000015.9:g.73615912G>A , CM000677.1:g.73615912G>A	GRCh37
NC_000015.8:g.71402965G>A	NCBI36
NG_009063.1:g.50694C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.2522C>T MANE Select	ENSP00000261917.3:p.Ser841Leu
ENST00000261917.3:c.2522C>T	ENSP00000261917.3:p.Ser841Leu
NM_005477.2:c.2522C>T	NP_005468.1:p.Ser841Leu
XM_011521148.1:c.1304C>T	XP_011519450.1:p.Ser435Leu
XM_011521148.2:c.1304C>T	XP_011519450.1:p.Ser435Leu
NM_005477.3:c.2522C>T MANE Select	NP_005468.1:p.Ser841Leu