Canonical Allele Identifier: CA369851602

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150642588C>G (hg19) ; chr7:g.150945500C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945500C>G , CM000669.2:g.150945500C>G	GRCh38
NC_000007.13:g.150642588C>G , CM000669.1:g.150642588C>G	GRCh37
NC_000007.12:g.150273521C>G	NCBI36
NG_008916.1:g.37427G>C , LRG_288:g.37427G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4178G>C
ENST00000262186.10:c.3345G>C MANE Select	ENSP00000262186.5:p.Met1115Ile
ENST00000330883.9:c.2325G>C	ENSP00000328531.4:p.Met775Ile
ENST00000262186.9:c.3345G>C	ENSP00000262186.5:p.Met1115Ile
ENST00000330883.8:c.2325G>C	ENSP00000328531.4:p.Met775Ile
NM_000238.3:c.3345G>C , LRG_288t1:c.3345G>C	NP_000229.1:p.Met1115Ile
NM_172057.2:c.2325G>C , LRG_288t3:c.2325G>C	NP_742054.1:p.Met775Ile
XM_011516185.1:c.3045G>C	XP_011514487.1:p.Met1015Ile
XM_011516185.2:c.3045G>C	XP_011514487.1:p.Met1015Ile
XM_017012195.1:c.3195G>C	XP_016867684.1:p.Met1065Ile
XM_017012196.1:c.3168G>C	XP_016867685.1:p.Met1056Ile
NM_000238.4:c.3345G>C MANE Select	NP_000229.1:p.Met1115Ile
NM_172057.3:c.2325G>C	NP_742054.1:p.Met775Ile