Canonical Allele Identifier: CA308795132

Gene: KCNN4

Linked Data

• dbSNP Id: rs560653281
• gnomAD v2: 19-44280471-AG-A
• gnomAD v3: 19-43776319-AG-A
• gnomAD v4: 19-43776319-AG-A
• MyVariant Identifiers: chr19:g.44280472del (hg19) ; chr19:g.43776320del (hg38)

Genomic Alleles

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

Transcript Alleles

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