Canonical Allele Identifier: CA369862277

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150655215G>C (hg19) ; chr7:g.150958127G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958127G>C , CM000669.2:g.150958127G>C	GRCh38
NC_000007.13:g.150655215G>C , CM000669.1:g.150655215G>C	GRCh37
NC_000007.12:g.150286148G>C	NCBI36
NG_008916.1:g.24800C>G , LRG_288:g.24800C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1681C>G
ENST00000262186.10:c.848C>G MANE Select	ENSP00000262186.5:p.Ser283Trp
ENST00000262186.9:c.848C>G	ENSP00000262186.5:p.Ser283Trp
ENST00000430723.4:c.500C>G	ENSP00000387657.4:p.Ser167Trp
ENST00000532957.5:n.1071C>G
NM_000238.3:c.848C>G , LRG_288t1:c.848C>G	NP_000229.1:p.Ser283Trp
NM_172056.2:c.848C>G , LRG_288t2:c.848C>G	NP_742053.1:p.Ser283Trp
XM_011516185.1:c.548C>G	XP_011514487.1:p.Ser183Trp
XM_011516186.1:c.848C>G	XP_011514488.1:p.Ser283Trp
XM_011516185.2:c.548C>G	XP_011514487.1:p.Ser183Trp
XM_011516186.3:c.848C>G	XP_011514488.1:p.Ser283Trp
XM_017012195.1:c.698C>G	XP_016867684.1:p.Ser233Trp
XM_017012196.1:c.671C>G	XP_016867685.1:p.Ser224Trp
NM_000238.4:c.848C>G MANE Select	NP_000229.1:p.Ser283Trp