Canonical Allele Identifier: CA369851606

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150642590T>A (hg19) ; chr7:g.150945502T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945502T>A , CM000669.2:g.150945502T>A	GRCh38
NC_000007.13:g.150642590T>A , CM000669.1:g.150642590T>A	GRCh37
NC_000007.12:g.150273523T>A	NCBI36
NG_008916.1:g.37425A>T , LRG_288:g.37425A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4176A>T
ENST00000262186.10:c.3343A>T MANE Select	ENSP00000262186.5:p.Met1115Leu
ENST00000330883.9:c.2323A>T	ENSP00000328531.4:p.Met775Leu
ENST00000262186.9:c.3343A>T	ENSP00000262186.5:p.Met1115Leu
ENST00000330883.8:c.2323A>T	ENSP00000328531.4:p.Met775Leu
NM_000238.3:c.3343A>T , LRG_288t1:c.3343A>T	NP_000229.1:p.Met1115Leu
NM_172057.2:c.2323A>T , LRG_288t3:c.2323A>T	NP_742054.1:p.Met775Leu
XM_011516185.1:c.3043A>T	XP_011514487.1:p.Met1015Leu
XM_011516185.2:c.3043A>T	XP_011514487.1:p.Met1015Leu
XM_017012195.1:c.3193A>T	XP_016867684.1:p.Met1065Leu
XM_017012196.1:c.3166A>T	XP_016867685.1:p.Met1056Leu
NM_000238.4:c.3343A>T MANE Select	NP_000229.1:p.Met1115Leu
NM_172057.3:c.2323A>T	NP_742054.1:p.Met775Leu