Canonical Allele Identifier: CA369862562

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150655293T>G (hg19) ; chr7:g.150958205T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958205T>G , CM000669.2:g.150958205T>G	GRCh38
NC_000007.13:g.150655293T>G , CM000669.1:g.150655293T>G	GRCh37
NC_000007.12:g.150286226T>G	NCBI36
NG_008916.1:g.24722A>C , LRG_288:g.24722A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1603A>C
ENST00000262186.10:c.770A>C MANE Select	ENSP00000262186.5:p.Asn257Thr
ENST00000262186.9:c.770A>C	ENSP00000262186.5:p.Asn257Thr
ENST00000430723.4:c.422A>C	ENSP00000387657.4:p.Asn141Thr
ENST00000532957.5:n.993A>C
NM_000238.3:c.770A>C , LRG_288t1:c.770A>C	NP_000229.1:p.Asn257Thr
NM_172056.2:c.770A>C , LRG_288t2:c.770A>C	NP_742053.1:p.Asn257Thr
XM_011516185.1:c.470A>C	XP_011514487.1:p.Asn157Thr
XM_011516186.1:c.770A>C	XP_011514488.1:p.Asn257Thr
XM_011516185.2:c.470A>C	XP_011514487.1:p.Asn157Thr
XM_011516186.3:c.770A>C	XP_011514488.1:p.Asn257Thr
XM_017012195.1:c.620A>C	XP_016867684.1:p.Asn207Thr
XM_017012196.1:c.593A>C	XP_016867685.1:p.Asn198Thr
NM_000238.4:c.770A>C MANE Select	NP_000229.1:p.Asn257Thr