Canonical Allele Identifier: CA369855396

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150646133C>G (hg19) ; chr7:g.150949045C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949045C>G , CM000669.2:g.150949045C>G	GRCh38
NC_000007.13:g.150646133C>G , CM000669.1:g.150646133C>G	GRCh37
NC_000007.12:g.150277066C>G	NCBI36
NG_008916.1:g.33882G>C , LRG_288:g.33882G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3236G>C
ENST00000262186.10:c.2403G>C MANE Select	ENSP00000262186.5:p.Lys801Asn
ENST00000330883.9:c.1383G>C	ENSP00000328531.4:p.Lys461Asn
ENST00000262186.9:c.2403G>C	ENSP00000262186.5:p.Lys801Asn
ENST00000330883.8:c.1383G>C	ENSP00000328531.4:p.Lys461Asn
NM_000238.3:c.2403G>C , LRG_288t1:c.2403G>C	NP_000229.1:p.Lys801Asn
NM_172057.2:c.1383G>C , LRG_288t3:c.1383G>C	NP_742054.1:p.Lys461Asn
XM_011516185.1:c.2103G>C	XP_011514487.1:p.Lys701Asn
XM_011516186.1:c.2403G>C	XP_011514488.1:p.Lys801Asn
XM_011516185.2:c.2103G>C	XP_011514487.1:p.Lys701Asn
XM_011516186.3:c.2403G>C	XP_011514488.1:p.Lys801Asn
XM_017012195.1:c.2253G>C	XP_016867684.1:p.Lys751Asn
XM_017012196.1:c.2226G>C	XP_016867685.1:p.Lys742Asn
NM_000238.4:c.2403G>C MANE Select	NP_000229.1:p.Lys801Asn
NM_172057.3:c.1383G>C	NP_742054.1:p.Lys461Asn