Canonical Allele Identifier: CA369857855
Gene: KCNH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.150648567C>G (hg19) chr7:g.150951479C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951479C>G , CM000669.2:g.150951479C>G GRCh38
NC_000007.13:g.150648567C>G , CM000669.1:g.150648567C>G GRCh37
NC_000007.12:g.150279500C>G NCBI36
NG_008916.1:g.31448G>C , LRG_288:g.31448G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1212G>C
ENST00000683359.1:n.38G>C
ENST00000684241.1:n.2747G>C
ENST00000262186.10:c.1914G>C MANE Select ENSP00000262186.5:p.Lys638Asn
ENST00000330883.9:c.894G>C ENSP00000328531.4:p.Lys298Asn
ENST00000262186.9:c.1914G>C ENSP00000262186.5:p.Lys638Asn
ENST00000330883.8:c.894G>C ENSP00000328531.4:p.Lys298Asn
ENST00000430723.4:c.1566G>C ENSP00000387657.4:p.Lys522Asn
ENST00000461280.1:n.1201G>C
ENST00000473610.5:n.1219G>C
ENST00000532957.5:n.2137G>C
NM_000238.3:c.1914G>C , LRG_288t1:c.1914G>C NP_000229.1:p.Lys638Asn
NM_001204798.1:c.894G>C NP_001191727.1:p.Lys298Asn
NM_172056.2:c.1914G>C , LRG_288t2:c.1914G>C NP_742053.1:p.Lys638Asn
NM_172057.2:c.894G>C , LRG_288t3:c.894G>C NP_742054.1:p.Lys298Asn
XM_011516185.1:c.1614G>C XP_011514487.1:p.Lys538Asn
XM_011516186.1:c.1914G>C XP_011514488.1:p.Lys638Asn
XM_011516185.2:c.1614G>C XP_011514487.1:p.Lys538Asn
XM_011516186.3:c.1914G>C XP_011514488.1:p.Lys638Asn
XM_017012195.1:c.1764G>C XP_016867684.1:p.Lys588Asn
XM_017012196.1:c.1737G>C XP_016867685.1:p.Lys579Asn
NM_000238.4:c.1914G>C MANE Select NP_000229.1:p.Lys638Asn
NM_001204798.2:c.894G>C NP_001191727.1:p.Lys298Asn
NM_172057.3:c.894G>C NP_742054.1:p.Lys298Asn
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