Canonical Allele Identifier: CA7649384

Gene: HCN4

Linked Data

• ClinVar Variation Id: 519261
• ClinVar RCV Id: RCV000622086 ; RCV000995398 ; RCV001374085
• dbSNP Id: rs368164073
• ExAC: 15:73635940 C / T
• gnomAD v2: 15-73635940-C-T
• gnomAD v3: 15-73343599-C-T
• gnomAD v4: 15-73343599-C-T
• MyVariant Identifiers: chr15:g.73635940C>T (hg19) ; chr15:g.73343599C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73343599C>T , CM000677.2:g.73343599C>T	GRCh38
NC_000015.9:g.73635940C>T , CM000677.1:g.73635940C>T	GRCh37
NC_000015.8:g.71422993C>T	NCBI36
NG_009063.1:g.30666G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.995G>A MANE Select	ENSP00000261917.3:p.Arg332Gln
ENST00000261917.3:c.995G>A	ENSP00000261917.3:p.Arg332Gln
NM_005477.2:c.995G>A	NP_005468.1:p.Arg332Gln
NM_005477.3:c.995G>A MANE Select	NP_005468.1:p.Arg332Gln