Canonical Allele Identifier: CA12154912
Gene: HCN1 HGNC NCBI
COSMIC:
COSN17132660 (not active)
COSN17133484 (not active)
COSN17134298 (not active)
COSN17135248 (not active)
COSN17138033 (not active)
COSN17138929 (not active)
COSN17139829 (not active)
COSN17140681 (not active)
COSN17141538 (not active)
COSN17142971 (not active)
COSN17144684 (not active)
COSN17146508 (not active)
COSN17150946 (not active)
COSN17152043 (not active)
COSN20463134 (not active)
MyVariant.info:
GRCh38 chr5:g.45285616A>C
GRCh37 chr5:g.45285718A>C
gnomAD v2:
5:45285718 A / C
gnomAD v3:
5:45285616 A / C
gnomAD v4:
chr5-45285616-A-C
Joint Max Group AF 0.45523032 (NFE)
Genomes Max Group AF 0.45523032 (NFE)
dbSNP:
981782
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45285616A>C , CM000667.2:g.45285616A>C GRCh38
NC_000005.9:g.45285718A>C , CM000667.1:g.45285718A>C GRCh37
NC_000005.8:g.45321475A>C NCBI36
NG_042183.1:g.415503T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.1618+17983T>G MANE Select ENSP00000307342.4:n.1618+17983T>G
ENST00000637305.1:n.781+17983T>G
ENST00000673735.1:c.1618+17983T>G ENSP00000501107.1:n.1618+17983T>G
ENST00000303230.5:c.1618+17983T>G ENSP00000307342.4:n.1618+17983T>G
NM_021072.3:c.1618+17983T>G NP_066550.2:n.1618+17983T>G
NM_021072.4:c.1618+17983T>G MANE Select NP_066550.2:n.1618+17983T>G
Search 100 bp 5'
Search 100 bp 3'