Canonical Allele Identifier: CA369861618

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150957389-T-G
• MyVariant Identifiers: chr7:g.150654477T>G (hg19) ; chr7:g.150957389T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957389T>G , CM000669.2:g.150957389T>G	GRCh38
NC_000007.13:g.150654477T>G , CM000669.1:g.150654477T>G	GRCh37
NC_000007.12:g.150285410T>G	NCBI36
NG_008916.1:g.25538A>C , LRG_288:g.25538A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1863A>C
ENST00000262186.10:c.1030A>C MANE Select	ENSP00000262186.5:p.Lys344Gln
ENST00000262186.9:c.1030A>C	ENSP00000262186.5:p.Lys344Gln
ENST00000430723.4:c.682A>C	ENSP00000387657.4:p.Lys228Gln
ENST00000532957.5:n.1253A>C
NM_000238.3:c.1030A>C , LRG_288t1:c.1030A>C	NP_000229.1:p.Lys344Gln
NM_172056.2:c.1030A>C , LRG_288t2:c.1030A>C	NP_742053.1:p.Lys344Gln
XM_011516185.1:c.730A>C	XP_011514487.1:p.Lys244Gln
XM_011516186.1:c.1030A>C	XP_011514488.1:p.Lys344Gln
XM_011516185.2:c.730A>C	XP_011514487.1:p.Lys244Gln
XM_011516186.3:c.1030A>C	XP_011514488.1:p.Lys344Gln
XM_017012195.1:c.880A>C	XP_016867684.1:p.Lys294Gln
XM_017012196.1:c.853A>C	XP_016867685.1:p.Lys285Gln
NM_000238.4:c.1030A>C MANE Select	NP_000229.1:p.Lys344Gln