Canonical Allele Identifier: CA349221054

Gene: KCNH7

Linked Data

• gnomAD v4: 2-162435383-G-A
• COSMIC: COSM5910290
• MyVariant Identifiers: chr2:g.163291893G>A (hg19) ; chr2:g.162435383G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162435383G>A , CM000664.2:g.162435383G>A	GRCh38
NC_000002.11:g.163291893G>A , CM000664.1:g.163291893G>A	GRCh37
NC_000002.10:g.163000139G>A	NCBI36
NG_041938.1:g.408365C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332142.10:c.1769C>T MANE Select	ENSP00000331727.5:p.Ser590Phe
ENST00000328032.8:c.1748C>T	ENSP00000333781.4:p.Ser583Phe
ENST00000332142.9:c.1769C>T	ENSP00000331727.5:p.Ser590Phe
ENST00000618399.4:c.1469C>T	ENSP00000482818.1:p.Ser490Phe
ENST00000621889.1:c.1442C>T	ENSP00000483158.1:p.Ser481Phe
NM_033272.3:c.1769C>T	NP_150375.2:p.Ser590Phe
NM_173162.2:c.1748C>T	NP_775185.1:p.Ser583Phe
XM_011512109.1:c.1793C>T	XP_011510411.1:p.Ser598Phe
XM_011512109.3:c.1793C>T	XP_011510411.1:p.Ser598Phe
XM_017005218.2:c.1793C>T	XP_016860707.1:p.Ser598Phe
XM_017005219.2:c.1769C>T	XP_016860708.1:p.Ser590Phe
XM_017005220.2:c.1748C>T	XP_016860709.1:p.Ser583Phe
XM_017005221.2:c.1793C>T	XP_016860710.1:p.Ser598Phe
NM_033272.4:c.1769C>T MANE Select	NP_150375.2:p.Ser590Phe
NM_173162.3:c.1748C>T	NP_775185.1:p.Ser583Phe