Canonical Allele Identifier: CA369853126

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947647-T-C
• MyVariant Identifiers: chr7:g.150644735T>C (hg19) ; chr7:g.150947647T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947647T>C , CM000669.2:g.150947647T>C	GRCh38
NC_000007.13:g.150644735T>C , CM000669.1:g.150644735T>C	GRCh37
NC_000007.12:g.150275668T>C	NCBI36
NG_008916.1:g.35280A>G , LRG_288:g.35280A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3757A>G
ENST00000262186.10:c.2924A>G MANE Select	ENSP00000262186.5:p.Glu975Gly
ENST00000330883.9:c.1904A>G	ENSP00000328531.4:p.Glu635Gly
ENST00000262186.9:c.2924A>G	ENSP00000262186.5:p.Glu975Gly
ENST00000330883.8:c.1904A>G	ENSP00000328531.4:p.Glu635Gly
NM_000238.3:c.2924A>G , LRG_288t1:c.2924A>G	NP_000229.1:p.Glu975Gly
NM_172057.2:c.1904A>G , LRG_288t3:c.1904A>G	NP_742054.1:p.Glu635Gly
XM_011516185.1:c.2624A>G	XP_011514487.1:p.Glu875Gly
XM_011516186.1:c.*4A>G	XP_011514488.1:n.*4A>G
XM_011516185.2:c.2624A>G	XP_011514487.1:p.Glu875Gly
XM_011516186.3:c.*4A>G	XP_011514488.1:n.*4A>G
XM_017012195.1:c.2774A>G	XP_016867684.1:p.Glu925Gly
XM_017012196.1:c.2747A>G	XP_016867685.1:p.Glu916Gly
NM_000238.4:c.2924A>G MANE Select	NP_000229.1:p.Glu975Gly
NM_172057.3:c.1904A>G	NP_742054.1:p.Glu635Gly