Canonical Allele Identifier: CA406198061

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273890T>C (hg19) ; chr19:g.43769738T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769738T>C , CM000681.2:g.43769738T>C	GRCh38
NC_000019.9:g.44273890T>C , CM000681.1:g.44273890T>C	GRCh37
NC_000019.8:g.48965730T>C	NCBI36
NG_052672.1:g.17402A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.533A>G
ENST00000648053.1:n.343A>G
ENST00000648319.1:c.911A>G MANE Select	ENSP00000496939.1:p.Asp304Gly
ENST00000262888.7:c.911A>G	ENSP00000262888.3:p.Asp304Gly
ENST00000598836.1:c.90A>G
ENST00000599720.5:c.*181A>G	ENSP00000472513.1:n.*181A>G
ENST00000600408.1:c.200A>G	ENSP00000472510.1:p.Asp67Gly
ENST00000601549.1:n.220A>G
ENST00000615047.4:c.515A>G	ENSP00000485014.1:p.Asp172Gly
NM_002250.2:c.911A>G	NP_002241.1:p.Asp304Gly
XM_005258882.2:c.815A>G	XP_005258939.1:p.Asp272Gly
XM_005258883.2:c.722A>G	XP_005258940.1:p.Asp241Gly
XR_935823.1:n.2157A>G
XR_002958313.1:n.2303A>G
NM_002250.3:c.911A>G MANE Select	NP_002241.1:p.Asp304Gly