Canonical Allele Identifier: CA2766121198

Gene: HCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.45645373_45645374insAACACACCCAACACA , CM000667.2:g.45645373_45645374insAACACACCCAACACA	GRCh38
NC_000005.9:g.45645475_45645476insAACACACCCAACACA , CM000667.1:g.45645475_45645476insAACACACCCAACACA	GRCh37
NC_000005.8:g.45681232_45681233insAACACACCCAACACA	NCBI36
NG_042183.1:g.55747_55748insTGTTGGGTGTGTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303230.6:c.662_663insTGTTGGGTGTGTTTG MANE Select	ENSP00000307342.4:p.Ser220_Trp221insCysValGlyCysVal
ENST00000673735.1:c.662_663insTGTTGGGTGTGTTTG	ENSP00000501107.1:p.Ser220_Trp221insCysValGlyCysVal
ENST00000303230.5:c.662_663insTGTTGGGTGTGTTTG	ENSP00000307342.4:p.Ser220_Trp221insCysValGlyCysVal
ENST00000634658.1:c.662_663insTGTTGGGTGTGTTTG	ENSP00000489134.1:p.Ser220_Trp221insCysValGlyCysVal
NM_021072.3:c.662_663insTGTTGGGTGTGTTTG	NP_066550.2:p.Ser220_Trp221insCysValGlyCysVal
NM_021072.4:c.662_663insTGTTGGGTGTGTTTG MANE Select	NP_066550.2:p.Ser220_Trp221insCysValGlyCysVal