Canonical Allele Identifier: CA369857851

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648565A>G (hg19) ; chr7:g.150951477A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951477A>G , CM000669.2:g.150951477A>G	GRCh38
NC_000007.13:g.150648565A>G , CM000669.1:g.150648565A>G	GRCh37
NC_000007.12:g.150279498A>G	NCBI36
NG_008916.1:g.31450T>C , LRG_288:g.31450T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1214T>C
ENST00000683359.1:n.40T>C
ENST00000684241.1:n.2749T>C
ENST00000262186.10:c.1916T>C MANE Select	ENSP00000262186.5:p.Ile639Thr
ENST00000330883.9:c.896T>C	ENSP00000328531.4:p.Ile299Thr
ENST00000262186.9:c.1916T>C	ENSP00000262186.5:p.Ile639Thr
ENST00000330883.8:c.896T>C	ENSP00000328531.4:p.Ile299Thr
ENST00000430723.4:c.1568T>C	ENSP00000387657.4:p.Ile523Thr
ENST00000461280.1:n.1203T>C
ENST00000473610.5:n.1221T>C
ENST00000532957.5:n.2139T>C
NM_000238.3:c.1916T>C , LRG_288t1:c.1916T>C	NP_000229.1:p.Ile639Thr
NM_001204798.1:c.896T>C	NP_001191727.1:p.Ile299Thr
NM_172056.2:c.1916T>C , LRG_288t2:c.1916T>C	NP_742053.1:p.Ile639Thr
NM_172057.2:c.896T>C , LRG_288t3:c.896T>C	NP_742054.1:p.Ile299Thr
XM_011516185.1:c.1616T>C	XP_011514487.1:p.Ile539Thr
XM_011516186.1:c.1916T>C	XP_011514488.1:p.Ile639Thr
XM_011516185.2:c.1616T>C	XP_011514487.1:p.Ile539Thr
XM_011516186.3:c.1916T>C	XP_011514488.1:p.Ile639Thr
XM_017012195.1:c.1766T>C	XP_016867684.1:p.Ile589Thr
XM_017012196.1:c.1739T>C	XP_016867685.1:p.Ile580Thr
NM_000238.4:c.1916T>C MANE Select	NP_000229.1:p.Ile639Thr
NM_001204798.2:c.896T>C	NP_001191727.1:p.Ile299Thr
NM_172057.3:c.896T>C	NP_742054.1:p.Ile299Thr