Canonical Allele Identifier: CA1108704354

Gene: KCNH2

Linked Data

• gnomAD v3: 7-150945502-T-TCATTAAAA
• gnomAD v4: 7-150945502-T-TCATTAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945502_150945503insCATTAAAA , CM000669.2:g.150945502_150945503insCATTAAAA	GRCh38
NC_000007.13:g.150642590_150642591insCATTAAAA , CM000669.1:g.150642590_150642591insCATTAAAA	GRCh37
NC_000007.12:g.150273523_150273524insCATTAAAA	NCBI36
NG_008916.1:g.37424_37425insTTTTAATG , LRG_288:g.37424_37425insTTTTAATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4175_4176insTTTTAATG
ENST00000262186.10:c.3342_3343insTTTTAATG MANE Select	ENSP00000262186.5:p.Met1115PhefsTer2
ENST00000330883.9:c.2322_2323insTTTTAATG	ENSP00000328531.4:p.Met775PhefsTer2
ENST00000262186.9:c.3342_3343insTTTTAATG	ENSP00000262186.5:p.Met1115PhefsTer2
ENST00000330883.8:c.2322_2323insTTTTAATG	ENSP00000328531.4:p.Met775PhefsTer2
NM_000238.3:c.3342_3343insTTTTAATG , LRG_288t1:c.3342_3343insTTTTAATG	NP_000229.1:p.Met1115PhefsTer2
NM_172057.2:c.2322_2323insTTTTAATG , LRG_288t3:c.2322_2323insTTTTAATG	NP_742054.1:p.Met775PhefsTer2
XM_011516185.1:c.3042_3043insTTTTAATG	XP_011514487.1:p.Met1015PhefsTer2
XM_011516185.2:c.3042_3043insTTTTAATG	XP_011514487.1:p.Met1015PhefsTer2
XM_017012195.1:c.3192_3193insTTTTAATG	XP_016867684.1:p.Met1065PhefsTer2
XM_017012196.1:c.3165_3166insTTTTAATG	XP_016867685.1:p.Met1056PhefsTer2
NM_000238.4:c.3342_3343insTTTTAATG MANE Select	NP_000229.1:p.Met1115PhefsTer2
NM_172057.3:c.2322_2323insTTTTAATG	NP_742054.1:p.Met775PhefsTer2