Canonical Allele Identifier: CA393097781

Gene: HCN4

Linked Data

• ClinVar Variation Id: 1745659
• ClinVar RCV Id: RCV002338251 ; RCV003102692 ; RCV003403797
• dbSNP Id: rs1595837376
• gnomAD v4: 15-73367757-G-A
• MyVariant Identifiers: chr15:g.73660098G>A (hg19) ; chr15:g.73367757G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73367757G>A , CM000677.2:g.73367757G>A	GRCh38
NC_000015.9:g.73660098G>A , CM000677.1:g.73660098G>A	GRCh37
NC_000015.8:g.71447151G>A	NCBI36
NG_009063.1:g.6508C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.514C>T MANE Select	ENSP00000261917.3:p.Pro172Ser
ENST00000261917.3:c.514C>T	ENSP00000261917.3:p.Pro172Ser
NM_005477.2:c.514C>T	NP_005468.1:p.Pro172Ser
NM_005477.3:c.514C>T MANE Select	NP_005468.1:p.Pro172Ser