Canonical Allele Identifier: CA008015
Gene: KCNH2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.150947347G>A
GRCh37 chr7:g.150644435G>A
Revel Score:
ENST00000330883 0.845
ENST00000392968 0.845
ENST00000262186 (MANE Select) 0.845
gnomAD v2:
7:150644435 G / A
gnomAD v3:
7:150947347 G / A
gnomAD v4:
chr7-150947347-G-A
Joint Max Group AF 0.00004051 (NFE)
Genomes Max Group AF 0.00019444 (NFE)
Exomes Max Group AF 0.00002706 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947347G>A , CM000669.2:g.150947347G>A GRCh38
NC_000007.13:g.150644435G>A , CM000669.1:g.150644435G>A GRCh37
NC_000007.12:g.150275368G>A NCBI36
NG_008916.1:g.35580C>T , LRG_288:g.35580C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3966C>T
ENST00000262186.10:c.3133C>T MANE Select ENSP00000262186.5:p.Leu1045Phe
ENST00000330883.9:c.2113C>T ENSP00000328531.4:p.Leu705Phe
ENST00000262186.9:c.3133C>T ENSP00000262186.5:p.Leu1045Phe
ENST00000330883.8:c.2113C>T ENSP00000328531.4:p.Leu705Phe
NM_000238.3:c.3133C>T , LRG_288t1:c.3133C>T NP_000229.1:p.Leu1045Phe
NM_172057.2:c.2113C>T , LRG_288t3:c.2113C>T NP_742054.1:p.Leu705Phe
XM_011516185.1:c.2833C>T XP_011514487.1:p.Leu945Phe
XM_011516185.2:c.2833C>T XP_011514487.1:p.Leu945Phe
XM_017012195.1:c.2983C>T XP_016867684.1:p.Leu995Phe
XM_017012196.1:c.2956C>T XP_016867685.1:p.Leu986Phe
NM_000238.4:c.3133C>T MANE Select NP_000229.1:p.Leu1045Phe
NM_172057.3:c.2113C>T NP_742054.1:p.Leu705Phe
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