Canonical Allele Identifier: CA308795129
Gene: KCNN4 HGNC NCBI

Linked Data

dbSNP Id: rs560653281
gnomAD v2: 19-44280471-A-AG
gnomAD v3: 19-43776319-A-AG
gnomAD v4: 19-43776319-A-AG
MyVariant Identifiers: chr19:g.44280472_44280473insG (hg19) chr19:g.44280471_44280472insG (hg19) chr19:g.43776320_43776321insG (hg38) chr19:g.43776319_43776320insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43776326dup , CM000681.2:g.43776326dup GRCh38
NC_000019.9:g.44280478dup , CM000681.1:g.44280478dup GRCh37
NC_000019.8:g.48972318dup NCBI36
NG_052672.1:g.10820dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000648319.1:c.255+221dup MANE Select ENSP00000496939.1:n.255+221dup
ENST00000262888.7:c.255+221dup ENSP00000262888.3:n.255+221dup
ENST00000599107.1:n.286+221dup
ENST00000599720.5:c.160-4217dup ENSP00000472513.1:n.160-4217dup
ENST00000615047.4:c.70+221dup ENSP00000485014.1:n.70+221dup
NM_002250.2:c.255+221dup NP_002241.1:n.255+221dup
XM_005258882.2:c.160-1701dup XP_005258939.1:n.160-1701dup
XM_005258883.2:c.70+221dup XP_005258940.1:n.70+221dup
XM_011526938.1:c.255+221dup XP_011525240.1:n.255+221dup
XR_935823.1:n.1533+221dup
XR_002958313.1:n.1533+221dup
NM_002250.3:c.255+221dup MANE Select NP_002241.1:n.255+221dup
Search 100 bp 5'
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