Canonical Allele Identifier: CA1935633

Gene: KCNH7

Linked Data

• dbSNP Id: rs758316902
• ExAC: 2:163291917 G / A
• gnomAD v2: 2-163291917-G-A
• gnomAD v4: 2-162435407-G-A
• MyVariant Identifiers: chr2:g.163291917G>A (hg19) ; chr2:g.162435407G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162435407G>A , CM000664.2:g.162435407G>A	GRCh38
NC_000002.11:g.163291917G>A , CM000664.1:g.163291917G>A	GRCh37
NC_000002.10:g.163000163G>A	NCBI36
NG_041938.1:g.408341C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332142.10:c.1745C>T MANE Select	ENSP00000331727.5:p.Thr582Ile
ENST00000328032.8:c.1724C>T	ENSP00000333781.4:p.Thr575Ile
ENST00000332142.9:c.1745C>T	ENSP00000331727.5:p.Thr582Ile
ENST00000618399.4:c.1445C>T	ENSP00000482818.1:p.Thr482Ile
ENST00000621889.1:c.1418C>T	ENSP00000483158.1:p.Thr473Ile
NM_033272.3:c.1745C>T	NP_150375.2:p.Thr582Ile
NM_173162.2:c.1724C>T	NP_775185.1:p.Thr575Ile
XM_011512109.1:c.1769C>T	XP_011510411.1:p.Thr590Ile
XM_011512109.3:c.1769C>T	XP_011510411.1:p.Thr590Ile
XM_017005218.2:c.1769C>T	XP_016860707.1:p.Thr590Ile
XM_017005219.2:c.1745C>T	XP_016860708.1:p.Thr582Ile
XM_017005220.2:c.1724C>T	XP_016860709.1:p.Thr575Ile
XM_017005221.2:c.1769C>T	XP_016860710.1:p.Thr590Ile
NM_033272.4:c.1745C>T MANE Select	NP_150375.2:p.Thr582Ile
NM_173162.3:c.1724C>T	NP_775185.1:p.Thr575Ile