Canonical Allele Identifier: CA353900
Gene: KCNH2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.150974946G>A
GRCh37 chr7:g.150672034G>A
gnomAD v2:
7:150672034 G / A
gnomAD v3:
7:150974946 G / A
gnomAD v4:
chr7-150974946-G-A
Joint Max Group AF 0.00001117 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001021 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974946G>A , CM000669.2:g.150974946G>A GRCh38
NC_000007.13:g.150672034G>A , CM000669.1:g.150672034G>A GRCh37
NC_000007.12:g.150302967G>A NCBI36
NG_008916.1:g.7981C>T , LRG_288:g.7981C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.77-5C>T MANE Select ENSP00000262186.5:n.77-5C>T
ENST00000262186.9:c.77-5C>T ENSP00000262186.5:n.77-5C>T
ENST00000430723.4:c.-101-5C>T ENSP00000387657.4:n.-101-5C>T
ENST00000532957.5:n.300-5C>T
NM_000238.3:c.77-5C>T , LRG_288t1:c.77-5C>T NP_000229.1:n.77-5C>T
NM_172056.2:c.77-5C>T , LRG_288t2:c.77-5C>T NP_742053.1:n.77-5C>T
XM_011516186.1:c.77-5C>T XP_011514488.1:n.77-5C>T
XM_011516186.3:c.77-5C>T XP_011514488.1:n.77-5C>T
XM_017012196.1:c.-101-5C>T XP_016867685.1:n.-101-5C>T
NM_000238.4:c.77-5C>T MANE Select NP_000229.1:n.77-5C>T
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