Canonical Allele Identifier: CA406198239

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273908A>C (hg19) ; chr19:g.43769756A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769756A>C , CM000681.2:g.43769756A>C	GRCh38
NC_000019.9:g.44273908A>C , CM000681.1:g.44273908A>C	GRCh37
NC_000019.8:g.48965748A>C	NCBI36
NG_052672.1:g.17384T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.515T>G
ENST00000648053.1:n.325T>G
ENST00000648319.1:c.893T>G MANE Select	ENSP00000496939.1:p.Val298Gly
ENST00000262888.7:c.893T>G	ENSP00000262888.3:p.Val298Gly
ENST00000598836.1:c.72T>G
ENST00000599720.5:c.*163T>G	ENSP00000472513.1:n.*163T>G
ENST00000600408.1:c.182T>G	ENSP00000472510.1:p.Val61Gly
ENST00000601549.1:n.202T>G
ENST00000615047.4:c.497T>G	ENSP00000485014.1:p.Val166Gly
NM_002250.2:c.893T>G	NP_002241.1:p.Val298Gly
XM_005258882.2:c.797T>G	XP_005258939.1:p.Val266Gly
XM_005258883.2:c.704T>G	XP_005258940.1:p.Val235Gly
XR_935823.1:n.2139T>G
XR_002958313.1:n.2285T>G
NM_002250.3:c.893T>G MANE Select	NP_002241.1:p.Val298Gly