Canonical Allele Identifier: CA359707346
Gene: HCN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.45645451A>G (hg19) chr5:g.45645349A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645349A>G , CM000667.2:g.45645349A>G GRCh38
NC_000005.9:g.45645451A>G , CM000667.1:g.45645451A>G GRCh37
NC_000005.8:g.45681208A>G NCBI36
NG_042183.1:g.55770T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.685T>C MANE Select ENSP00000307342.4:p.Ser229Pro
ENST00000673735.1:c.685T>C ENSP00000501107.1:p.Ser229Pro
ENST00000303230.5:c.685T>C ENSP00000307342.4:p.Ser229Pro
ENST00000634658.1:c.685T>C ENSP00000489134.1:p.Ser229Pro
NM_021072.3:c.685T>C NP_066550.2:p.Ser229Pro
NM_021072.4:c.685T>C MANE Select NP_066550.2:p.Ser229Pro
Search 100 bp 5'
Search 100 bp 3'