Canonical Allele Identifier: CA007983

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200707
• ClinVar RCV Id: RCV000182011
• dbSNP Id: rs794728471
• MyVariant Identifiers: chr7:g.150644439_150644456delinsTG (hg19) ; chr7:g.150947351_150947368delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947351_150947368delinsTG , CM000669.2:g.150947351_150947368delinsTG	GRCh38
NC_000007.13:g.150644439_150644456delinsTG , CM000669.1:g.150644439_150644456delinsTG	GRCh37
NC_000007.12:g.150275372_150275389delinsTG	NCBI36
NG_008916.1:g.35559_35576delinsCA , LRG_288:g.35559_35576delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3945_3962delinsCA
ENST00000262186.10:c.3112_3129delinsCA MANE Select	ENSP00000262186.5:p.Val1038GlnfsTer14
ENST00000330883.9:c.2092_2109delinsCA	ENSP00000328531.4:p.Val698GlnfsTer14
ENST00000262186.9:c.3112_3129delinsCA	ENSP00000262186.5:p.Val1038GlnfsTer14
ENST00000330883.8:c.2092_2109delinsCA	ENSP00000328531.4:p.Val698GlnfsTer14
NM_000238.3:c.3112_3129delinsCA , LRG_288t1:c.3112_3129delinsCA	NP_000229.1:p.Val1038GlnfsTer14
NM_172057.2:c.2092_2109delinsCA , LRG_288t3:c.2092_2109delinsCA	NP_742054.1:p.Val698GlnfsTer14
XM_011516185.1:c.2812_2829delinsCA	XP_011514487.1:p.Val938GlnfsTer14
XM_011516185.2:c.2812_2829delinsCA	XP_011514487.1:p.Val938GlnfsTer14
XM_017012195.1:c.2962_2979delinsCA	XP_016867684.1:p.Val988GlnfsTer14
XM_017012196.1:c.2935_2952delinsCA	XP_016867685.1:p.Val979GlnfsTer14
NM_000238.4:c.3112_3129delinsCA MANE Select	NP_000229.1:p.Val1038GlnfsTer14
NM_172057.3:c.2092_2109delinsCA	NP_742054.1:p.Val698GlnfsTer14