Canonical Allele Identifier: CA559412235
Gene: HCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1272334064
gnomAD v2: 5-45645246-T-G
gnomAD v4: 5-45645144-T-G
MyVariant Identifiers: chr5:g.45645246T>G (hg19) chr5:g.45645144T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645144T>G , CM000667.2:g.45645144T>G GRCh38
NC_000005.9:g.45645246T>G , CM000667.1:g.45645246T>G GRCh37
NC_000005.8:g.45681003T>G NCBI36
NG_042183.1:g.55975A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000303230.6:c.849+41A>C MANE Select ENSP00000307342.4:n.849+41A>C
ENST00000637256.1:n.77+41A>C
ENST00000673735.1:c.849+41A>C ENSP00000501107.1:n.849+41A>C
ENST00000303230.5:c.849+41A>C ENSP00000307342.4:n.849+41A>C
ENST00000634658.1:c.*2A>C ENSP00000489134.1:n.*2A>C
NM_021072.3:c.849+41A>C NP_066550.2:n.849+41A>C
NM_021072.4:c.849+41A>C MANE Select NP_066550.2:n.849+41A>C
Search 100 bp 5'
Search 100 bp 3'