Canonical Allele Identifier: CA507746417
Gene: KCNN4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.44273955C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43769803C>G , CM000681.2:g.43769803C>G GRCh38
NC_000019.9:g.44273955C>G , CM000681.1:g.44273955C>G GRCh37
NC_000019.8:g.48965795C>G NCBI36
NG_052672.1:g.17337G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000601549.2:n.468G>C
ENST00000648053.1:n.278G>C
ENST00000648319.1:c.846G>C MANE Select ENSP00000496939.1:p.Val282=
ENST00000262888.7:c.846G>C ENSP00000262888.3:p.Val282=
ENST00000598836.1:c.25G>C
ENST00000599720.5:c.*116G>C ENSP00000472513.1:n.*116G>C
ENST00000600408.1:c.135G>C ENSP00000472510.1:p.Val45=
ENST00000601549.1:n.155G>C
ENST00000615047.4:c.450G>C ENSP00000485014.1:p.Val150=
NM_002250.2:c.846G>C NP_002241.1:p.Val282=
XM_005258882.2:c.750G>C XP_005258939.1:p.Val250=
XM_005258883.2:c.657G>C XP_005258940.1:p.Val219=
XR_935823.1:n.2092G>C
XR_002958313.1:n.2238G>C
NM_002250.3:c.846G>C MANE Select NP_002241.1:p.Val282=