Canonical Allele Identifier: CA406198274
Gene: KCNN4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43769761C>A , CM000681.2:g.43769761C>A GRCh38
NC_000019.9:g.44273913C>A , CM000681.1:g.44273913C>A GRCh37
NC_000019.8:g.48965753C>A NCBI36
NG_052672.1:g.17379G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000601549.2:n.510G>T
ENST00000648053.1:n.320G>T
ENST00000648319.1:c.888G>T MANE Select ENSP00000496939.1:p.Lys296Asn
ENST00000262888.7:c.888G>T ENSP00000262888.3:p.Lys296Asn
ENST00000598836.1:c.67G>T
ENST00000599720.5:c.*158G>T ENSP00000472513.1:n.*158G>T
ENST00000600408.1:c.177G>T ENSP00000472510.1:p.Lys59Asn
ENST00000601549.1:n.197G>T
ENST00000615047.4:c.492G>T ENSP00000485014.1:p.Lys164Asn
NM_002250.2:c.888G>T NP_002241.1:p.Lys296Asn
XM_005258882.2:c.792G>T XP_005258939.1:p.Lys264Asn
XM_005258883.2:c.699G>T XP_005258940.1:p.Lys233Asn
XR_935823.1:n.2134G>T
XR_002958313.1:n.2280G>T
NM_002250.3:c.888G>T MANE Select NP_002241.1:p.Lys296Asn