Canonical Allele Identifier: CA369855060

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150646040C>G (hg19) ; chr7:g.150948952C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948952C>G , CM000669.2:g.150948952C>G	GRCh38
NC_000007.13:g.150646040C>G , CM000669.1:g.150646040C>G	GRCh37
NC_000007.12:g.150276973C>G	NCBI36
NG_008916.1:g.33975G>C , LRG_288:g.33975G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3329G>C
ENST00000262186.10:c.2496G>C MANE Select	ENSP00000262186.5:p.Lys832Asn
ENST00000330883.9:c.1476G>C	ENSP00000328531.4:p.Lys492Asn
ENST00000262186.9:c.2496G>C	ENSP00000262186.5:p.Lys832Asn
ENST00000330883.8:c.1476G>C	ENSP00000328531.4:p.Lys492Asn
NM_000238.3:c.2496G>C , LRG_288t1:c.2496G>C	NP_000229.1:p.Lys832Asn
NM_172057.2:c.1476G>C , LRG_288t3:c.1476G>C	NP_742054.1:p.Lys492Asn
XM_011516185.1:c.2196G>C	XP_011514487.1:p.Lys732Asn
XM_011516186.1:c.2496G>C	XP_011514488.1:p.Lys832Asn
XM_011516185.2:c.2196G>C	XP_011514487.1:p.Lys732Asn
XM_011516186.3:c.2496G>C	XP_011514488.1:p.Lys832Asn
XM_017012195.1:c.2346G>C	XP_016867684.1:p.Lys782Asn
XM_017012196.1:c.2319G>C	XP_016867685.1:p.Lys773Asn
NM_000238.4:c.2496G>C MANE Select	NP_000229.1:p.Lys832Asn
NM_172057.3:c.1476G>C	NP_742054.1:p.Lys492Asn