Canonical Allele Identifier: CA349221115

Gene: KCNH7

Linked Data

• gnomAD v4: 2-162435410-A-G
• MyVariant Identifiers: chr2:g.163291920A>G (hg19) ; chr2:g.162435410A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162435410A>G , CM000664.2:g.162435410A>G	GRCh38
NC_000002.11:g.163291920A>G , CM000664.1:g.163291920A>G	GRCh37
NC_000002.10:g.163000166A>G	NCBI36
NG_041938.1:g.408338T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332142.10:c.1742T>C MANE Select	ENSP00000331727.5:p.Leu581Pro
ENST00000328032.8:c.1721T>C	ENSP00000333781.4:p.Leu574Pro
ENST00000332142.9:c.1742T>C	ENSP00000331727.5:p.Leu581Pro
ENST00000618399.4:c.1442T>C	ENSP00000482818.1:p.Leu481Pro
ENST00000621889.1:c.1415T>C	ENSP00000483158.1:p.Leu472Pro
NM_033272.3:c.1742T>C	NP_150375.2:p.Leu581Pro
NM_173162.2:c.1721T>C	NP_775185.1:p.Leu574Pro
XM_011512109.1:c.1766T>C	XP_011510411.1:p.Leu589Pro
XM_011512109.3:c.1766T>C	XP_011510411.1:p.Leu589Pro
XM_017005218.2:c.1766T>C	XP_016860707.1:p.Leu589Pro
XM_017005219.2:c.1742T>C	XP_016860708.1:p.Leu581Pro
XM_017005220.2:c.1721T>C	XP_016860709.1:p.Leu574Pro
XM_017005221.2:c.1766T>C	XP_016860710.1:p.Leu589Pro
NM_033272.4:c.1742T>C MANE Select	NP_150375.2:p.Leu581Pro
NM_173162.3:c.1721T>C	NP_775185.1:p.Leu574Pro