Canonical Allele Identifier: CA369862560

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958205-T-C
• MyVariant Identifiers: chr7:g.150655293T>C (hg19) ; chr7:g.150958205T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1603A>G
ENST00000262186.10:c.770A>G MANE Select	ENSP00000262186.5:p.Asn257Ser
ENST00000262186.9:c.770A>G	ENSP00000262186.5:p.Asn257Ser
ENST00000430723.4:c.422A>G	ENSP00000387657.4:p.Asn141Ser
ENST00000532957.5:n.993A>G
NM_000238.3:c.770A>G , LRG_288t1:c.770A>G	NP_000229.1:p.Asn257Ser
NM_172056.2:c.770A>G , LRG_288t2:c.770A>G	NP_742053.1:p.Asn257Ser
XM_011516185.1:c.470A>G	XP_011514487.1:p.Asn157Ser
XM_011516186.1:c.770A>G	XP_011514488.1:p.Asn257Ser
XM_011516185.2:c.470A>G	XP_011514487.1:p.Asn157Ser
XM_011516186.3:c.770A>G	XP_011514488.1:p.Asn257Ser
XM_017012195.1:c.620A>G	XP_016867684.1:p.Asn207Ser
XM_017012196.1:c.593A>G	XP_016867685.1:p.Asn198Ser
NM_000238.4:c.770A>G MANE Select	NP_000229.1:p.Asn257Ser