Canonical Allele Identifier: CA169091611
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs943169354
MyVariant Identifiers: chr7:g.150977290C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150977290C>G , CM000669.2:g.150977290C>G GRCh38
NC_000007.13:g.150674378C>G , CM000669.1:g.150674378C>G GRCh37
NC_000007.12:g.150305311C>G NCBI36
NG_008916.1:g.5637G>C , LRG_288:g.5637G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.76+548G>C MANE Select ENSP00000262186.5:n.76+548G>C
ENST00000262186.9:c.76+548G>C ENSP00000262186.5:n.76+548G>C
ENST00000430723.4:c.-102+548G>C ENSP00000387657.4:n.-102+548G>C
ENST00000532957.5:n.299+548G>C
NM_000238.3:c.76+548G>C , LRG_288t1:c.76+548G>C NP_000229.1:n.76+548G>C
NM_172056.2:c.76+548G>C , LRG_288t2:c.76+548G>C NP_742053.1:n.76+548G>C
XM_011516186.1:c.76+548G>C XP_011514488.1:n.76+548G>C
XM_011516186.3:c.76+548G>C XP_011514488.1:n.76+548G>C
NM_000238.4:c.76+548G>C MANE Select NP_000229.1:n.76+548G>C
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