Canonical Allele Identifier: CA369853523

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644942G>C (hg19) ; chr7:g.150947854G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947854G>C , CM000669.2:g.150947854G>C	GRCh38
NC_000007.13:g.150644942G>C , CM000669.1:g.150644942G>C	GRCh37
NC_000007.12:g.150275875G>C	NCBI36
NG_008916.1:g.35073C>G , LRG_288:g.35073C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3550C>G
ENST00000262186.10:c.2717C>G MANE Select	ENSP00000262186.5:p.Ser906Trp
ENST00000330883.9:c.1697C>G	ENSP00000328531.4:p.Ser566Trp
ENST00000262186.9:c.2717C>G	ENSP00000262186.5:p.Ser906Trp
ENST00000330883.8:c.1697C>G	ENSP00000328531.4:p.Ser566Trp
NM_000238.3:c.2717C>G , LRG_288t1:c.2717C>G	NP_000229.1:p.Ser906Trp
NM_172057.2:c.1697C>G , LRG_288t3:c.1697C>G	NP_742054.1:p.Ser566Trp
XM_011516185.1:c.2417C>G	XP_011514487.1:p.Ser806Trp
XM_011516186.1:c.2693-163C>G	XP_011514488.1:n.2693-163C>G
XM_011516185.2:c.2417C>G	XP_011514487.1:p.Ser806Trp
XM_011516186.3:c.2693-163C>G	XP_011514488.1:n.2693-163C>G
XM_017012195.1:c.2567C>G	XP_016867684.1:p.Ser856Trp
XM_017012196.1:c.2540C>G	XP_016867685.1:p.Ser847Trp
NM_000238.4:c.2717C>G MANE Select	NP_000229.1:p.Ser906Trp
NM_172057.3:c.1697C>G	NP_742054.1:p.Ser566Trp