Canonical Allele Identifier: CA14662283

Gene: KCNN4

Linked Data

• ClinVar Variation Id: 1234226
• ClinVar RCV Id: RCV001620462
• dbSNP Id: rs2306801
• gnomAD v2: 19-44280478-G-A
• gnomAD v3: 19-43776326-G-A
• gnomAD v4: 19-43776326-G-A
• MyVariant Identifiers: chr19:g.44280478G>A (hg19) ; chr19:g.43776326G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43776326G>A , CM000681.2:g.43776326G>A	GRCh38
NC_000019.9:g.44280478G>A , CM000681.1:g.44280478G>A	GRCh37
NC_000019.8:g.48972318G>A	NCBI36
NG_052672.1:g.10814C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000648319.1:c.255+215C>T MANE Select	ENSP00000496939.1:n.255+215C>T
ENST00000262888.7:c.255+215C>T	ENSP00000262888.3:n.255+215C>T
ENST00000599107.1:n.286+215C>T
ENST00000599720.5:c.160-4223C>T	ENSP00000472513.1:n.160-4223C>T
ENST00000615047.4:c.70+215C>T	ENSP00000485014.1:n.70+215C>T
NM_002250.2:c.255+215C>T	NP_002241.1:n.255+215C>T
XM_005258882.2:c.160-1707C>T	XP_005258939.1:n.160-1707C>T
XM_005258883.2:c.70+215C>T	XP_005258940.1:n.70+215C>T
XM_011526938.1:c.255+215C>T	XP_011525240.1:n.255+215C>T
XR_935823.1:n.1533+215C>T
XR_002958313.1:n.1533+215C>T
NM_002250.3:c.255+215C>T MANE Select	NP_002241.1:n.255+215C>T