Canonical Allele Identifier: CA349220947

Gene: KCNH7

Linked Data

• MyVariant Identifiers: chr2:g.163291846A>C (hg19) ; chr2:g.162435336A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162435336A>C , CM000664.2:g.162435336A>C	GRCh38
NC_000002.11:g.163291846A>C , CM000664.1:g.163291846A>C	GRCh37
NC_000002.10:g.163000092A>C	NCBI36
NG_041938.1:g.408412T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332142.10:c.1816T>G MANE Select	ENSP00000331727.5:p.Ser606Ala
ENST00000328032.8:c.1795T>G	ENSP00000333781.4:p.Ser599Ala
ENST00000332142.9:c.1816T>G	ENSP00000331727.5:p.Ser606Ala
ENST00000618399.4:c.1516T>G	ENSP00000482818.1:p.Ser506Ala
ENST00000621889.1:c.1489T>G	ENSP00000483158.1:p.Ser497Ala
NM_033272.3:c.1816T>G	NP_150375.2:p.Ser606Ala
NM_173162.2:c.1795T>G	NP_775185.1:p.Ser599Ala
XM_011512109.1:c.1840T>G	XP_011510411.1:p.Ser614Ala
XM_011512109.3:c.1840T>G	XP_011510411.1:p.Ser614Ala
XM_017005218.2:c.1840T>G	XP_016860707.1:p.Ser614Ala
XM_017005219.2:c.1816T>G	XP_016860708.1:p.Ser606Ala
XM_017005220.2:c.1795T>G	XP_016860709.1:p.Ser599Ala
XM_017005221.2:c.1840T>G	XP_016860710.1:p.Ser614Ala
NM_033272.4:c.1816T>G MANE Select	NP_150375.2:p.Ser606Ala
NM_173162.3:c.1795T>G	NP_775185.1:p.Ser599Ala