Canonical Allele Identifier: CA369863398

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958440-A-G
• MyVariant Identifiers: chr7:g.150655528A>G (hg19) ; chr7:g.150958440A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958440A>G , CM000669.2:g.150958440A>G	GRCh38
NC_000007.13:g.150655528A>G , CM000669.1:g.150655528A>G	GRCh37
NC_000007.12:g.150286461A>G	NCBI36
NG_008916.1:g.24487T>C , LRG_288:g.24487T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1368T>C
ENST00000262186.10:c.535T>C MANE Select	ENSP00000262186.5:p.Ser179Pro
ENST00000262186.9:c.535T>C	ENSP00000262186.5:p.Ser179Pro
ENST00000430723.4:c.235-48T>C	ENSP00000387657.4:n.235-48T>C
ENST00000532957.5:n.758T>C
NM_000238.3:c.535T>C , LRG_288t1:c.535T>C	NP_000229.1:p.Ser179Pro
NM_172056.2:c.535T>C , LRG_288t2:c.535T>C	NP_742053.1:p.Ser179Pro
XM_011516185.1:c.235T>C	XP_011514487.1:p.Ser79Pro
XM_011516186.1:c.535T>C	XP_011514488.1:p.Ser179Pro
XM_011516185.2:c.235T>C	XP_011514487.1:p.Ser79Pro
XM_011516186.3:c.535T>C	XP_011514488.1:p.Ser179Pro
XM_017012195.1:c.385T>C	XP_016867684.1:p.Ser129Pro
XM_017012196.1:c.358T>C	XP_016867685.1:p.Ser120Pro
NM_000238.4:c.535T>C MANE Select	NP_000229.1:p.Ser179Pro