Canonical Allele Identifier: CA507746415

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273952G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769800G>C , CM000681.2:g.43769800G>C	GRCh38
NC_000019.9:g.44273952G>C , CM000681.1:g.44273952G>C	GRCh37
NC_000019.8:g.48965792G>C	NCBI36
NG_052672.1:g.17340C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.471C>G
ENST00000648053.1:n.281C>G
ENST00000648319.1:c.849C>G MANE Select	ENSP00000496939.1:p.Ala283=
ENST00000262888.7:c.849C>G	ENSP00000262888.3:p.Ala283=
ENST00000598836.1:c.28C>G
ENST00000599720.5:c.*119C>G	ENSP00000472513.1:n.*119C>G
ENST00000600408.1:c.138C>G	ENSP00000472510.1:p.Ala46=
ENST00000601549.1:n.158C>G
ENST00000615047.4:c.453C>G	ENSP00000485014.1:p.Ala151=
NM_002250.2:c.849C>G	NP_002241.1:p.Ala283=
XM_005258882.2:c.753C>G	XP_005258939.1:p.Ala251=
XM_005258883.2:c.660C>G	XP_005258940.1:p.Ala220=
XR_935823.1:n.2095C>G
XR_002958313.1:n.2241C>G
NM_002250.3:c.849C>G MANE Select	NP_002241.1:p.Ala283=