Canonical Allele Identifier: CA031327

Gene: KCNH2

Linked Data

• dbSNP Id: rs780647132
• ExAC: 7:150647444 A / G
• gnomAD v2: 7-150647444-A-G
• MyVariant Identifiers: chr7:g.150647444A>G (hg19) ; chr7:g.150950356A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950356A>G , CM000669.2:g.150950356A>G	GRCh38
NC_000007.13:g.150647444A>G , CM000669.1:g.150647444A>G	GRCh37
NC_000007.12:g.150278377A>G	NCBI36
NG_008916.1:g.32571T>C , LRG_288:g.32571T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1508T>C
ENST00000684241.1:n.3043T>C
ENST00000262186.10:c.2210T>C MANE Select	ENSP00000262186.5:p.Leu737Pro
ENST00000330883.9:c.1190T>C	ENSP00000328531.4:p.Leu397Pro
ENST00000262186.9:c.2210T>C	ENSP00000262186.5:p.Leu737Pro
ENST00000330883.8:c.1190T>C	ENSP00000328531.4:p.Leu397Pro
ENST00000430723.4:c.1862T>C	ENSP00000387657.4:p.Leu621Pro
ENST00000461280.1:n.1497T>C
ENST00000473610.5:n.1842T>C
ENST00000532957.5:n.2433T>C
NM_000238.3:c.2210T>C , LRG_288t1:c.2210T>C	NP_000229.1:p.Leu737Pro
NM_001204798.1:c.1190T>C	NP_001191727.1:p.Leu397Pro
NM_172056.2:c.2210T>C , LRG_288t2:c.2210T>C	NP_742053.1:p.Leu737Pro
NM_172057.2:c.1190T>C , LRG_288t3:c.1190T>C	NP_742054.1:p.Leu397Pro
XM_011516185.1:c.1910T>C	XP_011514487.1:p.Leu637Pro
XM_011516186.1:c.2210T>C	XP_011514488.1:p.Leu737Pro
XM_011516185.2:c.1910T>C	XP_011514487.1:p.Leu637Pro
XM_011516186.3:c.2210T>C	XP_011514488.1:p.Leu737Pro
XM_017012195.1:c.2060T>C	XP_016867684.1:p.Leu687Pro
XM_017012196.1:c.2033T>C	XP_016867685.1:p.Leu678Pro
NM_000238.4:c.2210T>C MANE Select	NP_000229.1:p.Leu737Pro
NM_001204798.2:c.1190T>C	NP_001191727.1:p.Leu397Pro
NM_172057.3:c.1190T>C	NP_742054.1:p.Leu397Pro