Canonical Allele Identifier: CA349220877

Gene: KCNH7

Linked Data

• COSMIC: COSM1400491 ; COSM1400492
• MyVariant Identifiers: chr2:g.163291813C>T (hg19) ; chr2:g.162435303C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162435303C>T , CM000664.2:g.162435303C>T	GRCh38
NC_000002.11:g.163291813C>T , CM000664.1:g.163291813C>T	GRCh37
NC_000002.10:g.163000059C>T	NCBI36
NG_041938.1:g.408445G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332142.10:c.1849G>A MANE Select	ENSP00000331727.5:p.Ala617Thr
ENST00000328032.8:c.1828G>A	ENSP00000333781.4:p.Ala610Thr
ENST00000332142.9:c.1849G>A	ENSP00000331727.5:p.Ala617Thr
ENST00000618399.4:c.1549G>A	ENSP00000482818.1:p.Ala517Thr
ENST00000621889.1:c.1522G>A	ENSP00000483158.1:p.Ala508Thr
NM_033272.3:c.1849G>A	NP_150375.2:p.Ala617Thr
NM_173162.2:c.1828G>A	NP_775185.1:p.Ala610Thr
XM_011512109.1:c.1873G>A	XP_011510411.1:p.Ala625Thr
XM_011512109.3:c.1873G>A	XP_011510411.1:p.Ala625Thr
XM_017005218.2:c.1873G>A	XP_016860707.1:p.Ala625Thr
XM_017005219.2:c.1849G>A	XP_016860708.1:p.Ala617Thr
XM_017005220.2:c.1828G>A	XP_016860709.1:p.Ala610Thr
XM_017005221.2:c.1873G>A	XP_016860710.1:p.Ala625Thr
NM_033272.4:c.1849G>A MANE Select	NP_150375.2:p.Ala617Thr
NM_173162.3:c.1828G>A	NP_775185.1:p.Ala610Thr