Canonical Allele Identifier: CA2337652646
Gene: KCNN4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43769810A= , CM000681.2:g.43769810A= GRCh38
NC_000019.9:g.44273962A= , CM000681.1:g.44273962A= GRCh37
NC_000019.8:g.48965802A= NCBI36
NG_052672.1:g.17330T=

Transcript Alleles

HGVS Amino-acid change
ENST00000601549.2:n.461T=
ENST00000648053.1:n.271T=
ENST00000648319.1:c.839T= MANE Select ENSP00000496939.1:p.Leu280=
ENST00000262888.7:c.839T= ENSP00000262888.3:p.Leu280=
ENST00000598836.1:c.18T=
ENST00000599720.5:c.*109T= ENSP00000472513.1:n.*109T=
ENST00000600408.1:c.128T= ENSP00000472510.1:p.Leu43=
ENST00000601549.1:n.148T=
ENST00000615047.4:c.443T= ENSP00000485014.1:p.Leu148=
NM_002250.2:c.839T= NP_002241.1:p.Leu280=
XM_005258882.2:c.743T= XP_005258939.1:p.Leu248=
XM_005258883.2:c.650T= XP_005258940.1:p.Leu217=
XR_935823.1:n.2085T=
XR_002958313.1:n.2231T=
NM_002250.3:c.839T= MANE Select NP_002241.1:p.Leu280=