Canonical Allele Identifier: CA369855387

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150646129C>G (hg19) ; chr7:g.150949041C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949041C>G , CM000669.2:g.150949041C>G	GRCh38
NC_000007.13:g.150646129C>G , CM000669.1:g.150646129C>G	GRCh37
NC_000007.12:g.150277062C>G	NCBI36
NG_008916.1:g.33886G>C , LRG_288:g.33886G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3240G>C
ENST00000262186.10:c.2407G>C MANE Select	ENSP00000262186.5:p.Asp803His
ENST00000330883.9:c.1387G>C	ENSP00000328531.4:p.Asp463His
ENST00000262186.9:c.2407G>C	ENSP00000262186.5:p.Asp803His
ENST00000330883.8:c.1387G>C	ENSP00000328531.4:p.Asp463His
NM_000238.3:c.2407G>C , LRG_288t1:c.2407G>C	NP_000229.1:p.Asp803His
NM_172057.2:c.1387G>C , LRG_288t3:c.1387G>C	NP_742054.1:p.Asp463His
XM_011516185.1:c.2107G>C	XP_011514487.1:p.Asp703His
XM_011516186.1:c.2407G>C	XP_011514488.1:p.Asp803His
XM_011516185.2:c.2107G>C	XP_011514487.1:p.Asp703His
XM_011516186.3:c.2407G>C	XP_011514488.1:p.Asp803His
XM_017012195.1:c.2257G>C	XP_016867684.1:p.Asp753His
XM_017012196.1:c.2230G>C	XP_016867685.1:p.Asp744His
NM_000238.4:c.2407G>C MANE Select	NP_000229.1:p.Asp803His
NM_172057.3:c.1387G>C	NP_742054.1:p.Asp463His