Canonical Allele Identifier: CA559415959

Gene: HCN1

Linked Data

• dbSNP Id: rs1218406792
• gnomAD v2: 5-45461931-TAA-T
• gnomAD v3: 5-45461829-TAA-T
• gnomAD v4: 5-45461829-TAA-T
• MyVariant Identifiers: chr5:g.45461932_45461933del (hg19) ; chr5:g.45461830_45461831del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.45461830_45461831del , CM000667.2:g.45461830_45461831del	GRCh38
NC_000005.9:g.45461932_45461933del , CM000667.1:g.45461932_45461933del	GRCh37
NC_000005.8:g.45497689_45497690del	NCBI36
NG_042183.1:g.239288_239289del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303230.6:c.1011+15_1011+16del MANE Select	ENSP00000307342.4:n.1011+15_1011+16del
ENST00000637305.1:n.174+15_174+16del
ENST00000673735.1:c.1011+15_1011+16del	ENSP00000501107.1:n.1011+15_1011+16del
ENST00000303230.5:c.1011+15_1011+16del	ENSP00000307342.4:n.1011+15_1011+16del
NM_021072.3:c.1011+15_1011+16del	NP_066550.2:n.1011+15_1011+16del
NM_021072.4:c.1011+15_1011+16del MANE Select	NP_066550.2:n.1011+15_1011+16del