Canonical Allele Identifier: CA369853717

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 3073894
• ClinVar RCV Id: RCV004012436
• MyVariant Identifiers: chr7:g.150645567T>G (hg19) ; chr7:g.150948479T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948479T>G , CM000669.2:g.150948479T>G	GRCh38
NC_000007.13:g.150645567T>G , CM000669.1:g.150645567T>G	GRCh37
NC_000007.12:g.150276500T>G	NCBI36
NG_008916.1:g.34448A>C , LRG_288:g.34448A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3490A>C
ENST00000262186.10:c.2657A>C MANE Select	ENSP00000262186.5:p.Lys886Thr
ENST00000330883.9:c.1637A>C	ENSP00000328531.4:p.Lys546Thr
ENST00000262186.9:c.2657A>C	ENSP00000262186.5:p.Lys886Thr
ENST00000330883.8:c.1637A>C	ENSP00000328531.4:p.Lys546Thr
NM_000238.3:c.2657A>C , LRG_288t1:c.2657A>C	NP_000229.1:p.Lys886Thr
NM_172057.2:c.1637A>C , LRG_288t3:c.1637A>C	NP_742054.1:p.Lys546Thr
XM_011516185.1:c.2357A>C	XP_011514487.1:p.Lys786Thr
XM_011516186.1:c.2657A>C	XP_011514488.1:p.Lys886Thr
XM_011516185.2:c.2357A>C	XP_011514487.1:p.Lys786Thr
XM_011516186.3:c.2657A>C	XP_011514488.1:p.Lys886Thr
XM_017012195.1:c.2507A>C	XP_016867684.1:p.Lys836Thr
XM_017012196.1:c.2480A>C	XP_016867685.1:p.Lys827Thr
NM_000238.4:c.2657A>C MANE Select	NP_000229.1:p.Lys886Thr
NM_172057.3:c.1637A>C	NP_742054.1:p.Lys546Thr