Canonical Allele Identifier: CA2685609502

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958555-G-GGAGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958556_150958557insAGCAG , CM000669.2:g.150958556_150958557insAGCAG	GRCh38
NC_000007.13:g.150655644_150655645insAGCAG , CM000669.1:g.150655644_150655645insAGCAG	GRCh37
NC_000007.12:g.150286577_150286578insAGCAG	NCBI36
NG_008916.1:g.24371_24372insTGCTC , LRG_288:g.24371_24372insTGCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1306-54_1306-53insTGCTC
ENST00000262186.10:c.473-54_473-53insTGCTC MANE Select	ENSP00000262186.5:n.473-54_473-53insTGCTC
ENST00000262186.9:c.473-54_473-53insTGCTC	ENSP00000262186.5:n.473-54_473-53insTGCTC
ENST00000430723.4:c.235-164_235-163insTGCTC	ENSP00000387657.4:n.235-164_235-163insTGCTC
ENST00000532957.5:n.696-54_696-53insTGCTC
NM_000238.3:c.473-54_473-53insTGCTC , LRG_288t1:c.473-54_473-53insTGCTC	NP_000229.1:n.473-54_473-53insTGCTC
NM_172056.2:c.473-54_473-53insTGCTC , LRG_288t2:c.473-54_473-53insTGCTC	NP_742053.1:n.473-54_473-53insTGCTC
XM_011516185.1:c.173-54_173-53insTGCTC	XP_011514487.1:n.173-54_173-53insTGCTC
XM_011516186.1:c.473-54_473-53insTGCTC	XP_011514488.1:n.473-54_473-53insTGCTC
XM_011516185.2:c.173-54_173-53insTGCTC	XP_011514487.1:n.173-54_173-53insTGCTC
XM_011516186.3:c.473-54_473-53insTGCTC	XP_011514488.1:n.473-54_473-53insTGCTC
XM_017012195.1:c.323-54_323-53insTGCTC	XP_016867684.1:n.323-54_323-53insTGCTC
XM_017012196.1:c.296-54_296-53insTGCTC	XP_016867685.1:n.296-54_296-53insTGCTC
NM_000238.4:c.473-54_473-53insTGCTC MANE Select	NP_000229.1:n.473-54_473-53insTGCTC