Canonical Allele Identifier: CA369854929

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948918-T-A
• MyVariant Identifiers: chr7:g.150646006T>A (hg19) ; chr7:g.150948918T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948918T>A , CM000669.2:g.150948918T>A	GRCh38
NC_000007.13:g.150646006T>A , CM000669.1:g.150646006T>A	GRCh37
NC_000007.12:g.150276939T>A	NCBI36
NG_008916.1:g.34009A>T , LRG_288:g.34009A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3363A>T
ENST00000262186.10:c.2530A>T MANE Select	ENSP00000262186.5:p.Met844Leu
ENST00000330883.9:c.1510A>T	ENSP00000328531.4:p.Met504Leu
ENST00000262186.9:c.2530A>T	ENSP00000262186.5:p.Met844Leu
ENST00000330883.8:c.1510A>T	ENSP00000328531.4:p.Met504Leu
NM_000238.3:c.2530A>T , LRG_288t1:c.2530A>T	NP_000229.1:p.Met844Leu
NM_172057.2:c.1510A>T , LRG_288t3:c.1510A>T	NP_742054.1:p.Met504Leu
XM_011516185.1:c.2230A>T	XP_011514487.1:p.Met744Leu
XM_011516186.1:c.2530A>T	XP_011514488.1:p.Met844Leu
XM_011516185.2:c.2230A>T	XP_011514487.1:p.Met744Leu
XM_011516186.3:c.2530A>T	XP_011514488.1:p.Met844Leu
XM_017012195.1:c.2380A>T	XP_016867684.1:p.Met794Leu
XM_017012196.1:c.2353A>T	XP_016867685.1:p.Met785Leu
NM_000238.4:c.2530A>T MANE Select	NP_000229.1:p.Met844Leu
NM_172057.3:c.1510A>T	NP_742054.1:p.Met504Leu