Canonical Allele Identifier: CA996171705
Gene: KCNN4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43769364T>G , CM000681.2:g.43769364T>G GRCh38
NC_000019.9:g.44273516T>G , CM000681.1:g.44273516T>G GRCh37
NC_000019.8:g.48965356T>G NCBI36
NG_052672.1:g.17776A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000601549.2:n.749A>C
ENST00000648053.1:n.481+78A>C
ENST00000648319.1:c.1049+78A>C MANE Select ENSP00000496939.1:n.1049+78A>C
ENST00000262888.7:c.1049+78A>C ENSP00000262888.3:n.1049+78A>C
ENST00000598836.1:c.244A>C
ENST00000599720.5:c.*319+78A>C ENSP00000472513.1:n.*319+78A>C
ENST00000600408.1:c.416A>C ENSP00000472510.1:n.416A>C
ENST00000601549.1:n.436A>C
ENST00000615047.4:c.653+78A>C ENSP00000485014.1:n.653+78A>C
NM_002250.2:c.1049+78A>C NP_002241.1:n.1049+78A>C
XM_005258882.2:c.953+78A>C XP_005258939.1:n.953+78A>C
XM_005258883.2:c.860+78A>C XP_005258940.1:n.860+78A>C
XR_935823.1:n.2295+78A>C
XR_002958313.1:n.2441+78A>C
NM_002250.3:c.1049+78A>C MANE Select NP_002241.1:n.1049+78A>C