Canonical Allele Identifier: CA406197947
Gene: KCNN4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43769729T>G , CM000681.2:g.43769729T>G GRCh38
NC_000019.9:g.44273881T>G , CM000681.1:g.44273881T>G GRCh37
NC_000019.8:g.48965721T>G NCBI36
NG_052672.1:g.17411A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000601549.2:n.542A>C
ENST00000648053.1:n.352A>C
ENST00000648319.1:c.920A>C MANE Select ENSP00000496939.1:p.Tyr307Ser
ENST00000262888.7:c.920A>C ENSP00000262888.3:p.Tyr307Ser
ENST00000598836.1:c.99A>C
ENST00000599720.5:c.*190A>C ENSP00000472513.1:n.*190A>C
ENST00000600408.1:c.209A>C ENSP00000472510.1:p.Tyr70Ser
ENST00000601549.1:n.229A>C
ENST00000615047.4:c.524A>C ENSP00000485014.1:p.Tyr175Ser
NM_002250.2:c.920A>C NP_002241.1:p.Tyr307Ser
XM_005258882.2:c.824A>C XP_005258939.1:p.Tyr275Ser
XM_005258883.2:c.731A>C XP_005258940.1:p.Tyr244Ser
XR_935823.1:n.2166A>C
XR_002958313.1:n.2312A>C
NM_002250.3:c.920A>C MANE Select NP_002241.1:p.Tyr307Ser