Canonical Allele Identifier: CA359704621
Gene: HCN1 HGNC NCBI

Linked Data

gnomAD v4: 5-45461847-A-G
COSMIC: COSM1068508
MyVariant Identifiers: chr5:g.45461949A>G (hg19) chr5:g.45461847A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45461847A>G , CM000667.2:g.45461847A>G GRCh38
NC_000005.9:g.45461949A>G , CM000667.1:g.45461949A>G GRCh37
NC_000005.8:g.45497706A>G NCBI36
NG_042183.1:g.239272T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000303230.6:c.1010T>C MANE Select ENSP00000307342.4:p.Val337Ala
ENST00000637305.1:n.173T>C
ENST00000673735.1:c.1010T>C ENSP00000501107.1:p.Val337Ala
ENST00000303230.5:c.1010T>C ENSP00000307342.4:p.Val337Ala
NM_021072.3:c.1010T>C NP_066550.2:p.Val337Ala
NM_021072.4:c.1010T>C MANE Select NP_066550.2:p.Val337Ala
Search 100 bp 5'
Search 100 bp 3'