Canonical Allele Identifier: CA2187190713
Community Standard Title: NM_005477.3(HCN4):c.1657G= (p.Asp553=)
Gene: HCN4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73325378C= , CM000677.2:g.73325378C= GRCh38
NC_000015.9:g.73617719C= , CM000677.1:g.73617719C= GRCh37
NC_000015.8:g.71404772C= NCBI36
NG_009063.1:g.48887G=

Transcript Alleles

HGVS Amino-acid Change
NM_005477.3:c.1657G= MANE Select NP_005468.1:p.Asp553=
ENST00000261917.4:c.1657G= MANE Select ENSP00000261917.3:p.Asp553=
NM_005477.2:c.1657G= NP_005468.1:p.Asp553=
ENST00000261917.3:c.1657G= ENSP00000261917.3:p.Asp553=
XM_011521148.1:c.439G= XP_011519450.1:p.Asp147=
XM_011521148.2:c.439G= XP_011519450.1:p.Asp147=