Canonical Allele Identifier: CA369853593

Gene: KCNH2

Linked Data

• dbSNP Id: rs1287769023
• gnomAD v2: 7-150645530-A-C
• gnomAD v3: 7-150948442-A-C
• gnomAD v4: 7-150948442-A-C
• MyVariant Identifiers: chr7:g.150645530A>C (hg19) ; chr7:g.150645530_150645531delinsCC (hg19) ; chr7:g.150948442A>C (hg38) ; chr7:g.150948442_150948443delinsCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948442A>C , CM000669.2:g.150948442A>C	GRCh38
NC_000007.13:g.150645530A>C , CM000669.1:g.150645530A>C	GRCh37
NC_000007.12:g.150276463A>C	NCBI36
NG_008916.1:g.34485T>G , LRG_288:g.34485T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3525+2T>G
ENST00000262186.10:c.2692+2T>G MANE Select	ENSP00000262186.5:n.2692+2T>G
ENST00000330883.9:c.1672+2T>G	ENSP00000328531.4:n.1672+2T>G
ENST00000262186.9:c.2692+2T>G	ENSP00000262186.5:n.2692+2T>G
ENST00000330883.8:c.1672+2T>G	ENSP00000328531.4:n.1672+2T>G
NM_000238.3:c.2692+2T>G , LRG_288t1:c.2692+2T>G	NP_000229.1:n.2692+2T>G
NM_172057.2:c.1672+2T>G , LRG_288t3:c.1672+2T>G	NP_742054.1:n.1672+2T>G
XM_011516185.1:c.2392+2T>G	XP_011514487.1:n.2392+2T>G
XM_011516186.1:c.2692+2T>G	XP_011514488.1:n.2692+2T>G
XM_011516185.2:c.2392+2T>G	XP_011514487.1:n.2392+2T>G
XM_011516186.3:c.2692+2T>G	XP_011514488.1:n.2692+2T>G
XM_017012195.1:c.2542+2T>G	XP_016867684.1:n.2542+2T>G
XM_017012196.1:c.2515+2T>G	XP_016867685.1:n.2515+2T>G
NM_000238.4:c.2692+2T>G MANE Select	NP_000229.1:n.2692+2T>G
NM_172057.3:c.1672+2T>G	NP_742054.1:n.1672+2T>G