Canonical Allele Identifier: CA2579062426

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150945552-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945552A>G , CM000669.2:g.150945552A>G	GRCh38
NC_000007.13:g.150642640A>G , CM000669.1:g.150642640A>G	GRCh37
NC_000007.12:g.150273573A>G	NCBI36
NG_008916.1:g.37375T>C , LRG_288:g.37375T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.4164-38T>C
ENST00000262186.10:c.3331-38T>C MANE Select	ENSP00000262186.5:n.3331-38T>C
ENST00000330883.9:c.2311-38T>C	ENSP00000328531.4:n.2311-38T>C
ENST00000262186.9:c.3331-38T>C	ENSP00000262186.5:n.3331-38T>C
ENST00000330883.8:c.2311-38T>C	ENSP00000328531.4:n.2311-38T>C
NM_000238.3:c.3331-38T>C , LRG_288t1:c.3331-38T>C	NP_000229.1:n.3331-38T>C
NM_172057.2:c.2311-38T>C , LRG_288t3:c.2311-38T>C	NP_742054.1:n.2311-38T>C
XM_011516185.1:c.3031-38T>C	XP_011514487.1:n.3031-38T>C
XM_011516185.2:c.3031-38T>C	XP_011514487.1:n.3031-38T>C
XM_017012195.1:c.3181-38T>C	XP_016867684.1:n.3181-38T>C
XM_017012196.1:c.3154-38T>C	XP_016867685.1:n.3154-38T>C
NM_000238.4:c.3331-38T>C MANE Select	NP_000229.1:n.3331-38T>C
NM_172057.3:c.2311-38T>C	NP_742054.1:n.2311-38T>C