Canonical Allele Identifier: CA369862953

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958320-C-G
• MyVariant Identifiers: chr7:g.150655408C>G (hg19) ; chr7:g.150958320C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958320C>G , CM000669.2:g.150958320C>G	GRCh38
NC_000007.13:g.150655408C>G , CM000669.1:g.150655408C>G	GRCh37
NC_000007.12:g.150286341C>G	NCBI36
NG_008916.1:g.24607G>C , LRG_288:g.24607G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1488G>C
ENST00000262186.10:c.655G>C MANE Select	ENSP00000262186.5:p.Asp219His
ENST00000262186.9:c.655G>C	ENSP00000262186.5:p.Asp219His
ENST00000430723.4:c.307G>C	ENSP00000387657.4:p.Asp103His
ENST00000532957.5:n.878G>C
NM_000238.3:c.655G>C , LRG_288t1:c.655G>C	NP_000229.1:p.Asp219His
NM_172056.2:c.655G>C , LRG_288t2:c.655G>C	NP_742053.1:p.Asp219His
XM_011516185.1:c.355G>C	XP_011514487.1:p.Asp119His
XM_011516186.1:c.655G>C	XP_011514488.1:p.Asp219His
XM_011516185.2:c.355G>C	XP_011514487.1:p.Asp119His
XM_011516186.3:c.655G>C	XP_011514488.1:p.Asp219His
XM_017012195.1:c.505G>C	XP_016867684.1:p.Asp169His
XM_017012196.1:c.478G>C	XP_016867685.1:p.Asp160His
NM_000238.4:c.655G>C MANE Select	NP_000229.1:p.Asp219His