Canonical Allele Identifier: CA7649382

Gene: HCN4

Linked Data

• ClinVar Variation Id: 538097
• ClinVar RCV Id: RCV000647258 ; RCV001584492 ; RCV002331216
• dbSNP Id: rs147771899
• ExAC: 15:73635921 C / G
• gnomAD v2: 15-73635921-C-G
• gnomAD v3: 15-73343580-C-G
• gnomAD v4: 15-73343580-C-G
• MyVariant Identifiers: chr15:g.73635921C>G (hg19) ; chr15:g.73343580C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73343580C>G , CM000677.2:g.73343580C>G	GRCh38
NC_000015.9:g.73635921C>G , CM000677.1:g.73635921C>G	GRCh37
NC_000015.8:g.71422974C>G	NCBI36
NG_009063.1:g.30685G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.1014G>C MANE Select	ENSP00000261917.3:p.Leu338=
ENST00000261917.3:c.1014G>C	ENSP00000261917.3:p.Leu338=
NM_005477.2:c.1014G>C	NP_005468.1:p.Leu338=
NM_005477.3:c.1014G>C MANE Select	NP_005468.1:p.Leu338=