Canonical Allele Identifier: CA16043993

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 374955
• ClinVar RCV Id: RCV002481291
• dbSNP Id: rs199472881
• gnomAD v3: 7-150958103-A-C
• gnomAD v4: 7-150958103-A-C
• MyVariant Identifiers: chr7:g.150655191A>C (hg19) ; chr7:g.150958103A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958103A>C , CM000669.2:g.150958103A>C	GRCh38
NC_000007.13:g.150655191A>C , CM000669.1:g.150655191A>C	GRCh37
NC_000007.12:g.150286124A>C	NCBI36
NG_008916.1:g.24824T>G , LRG_288:g.24824T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1705T>G
ENST00000262186.10:c.872T>G MANE Select	ENSP00000262186.5:p.Met291Arg
ENST00000262186.9:c.872T>G	ENSP00000262186.5:p.Met291Arg
ENST00000430723.4:c.524T>G	ENSP00000387657.4:p.Met175Arg
ENST00000532957.5:n.1095T>G
NM_000238.3:c.872T>G , LRG_288t1:c.872T>G	NP_000229.1:p.Met291Arg
NM_172056.2:c.872T>G , LRG_288t2:c.872T>G	NP_742053.1:p.Met291Arg
XM_011516185.1:c.572T>G	XP_011514487.1:p.Met191Arg
XM_011516186.1:c.872T>G	XP_011514488.1:p.Met291Arg
XM_011516185.2:c.572T>G	XP_011514487.1:p.Met191Arg
XM_011516186.3:c.872T>G	XP_011514488.1:p.Met291Arg
XM_017012195.1:c.722T>G	XP_016867684.1:p.Met241Arg
XM_017012196.1:c.695T>G	XP_016867685.1:p.Met232Arg
NM_000238.4:c.872T>G MANE Select	NP_000229.1:p.Met291Arg