Canonical Allele Identifier: CA308795192

Gene: KCNN4

Linked Data

• dbSNP Id: rs1037820143
• gnomAD v3: 19-43776380-C-G
• gnomAD v4: 19-43776380-C-G
• MyVariant Identifiers: chr19:g.44280532C>G (hg19) ; chr19:g.43776380C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43776380C>G , CM000681.2:g.43776380C>G	GRCh38
NC_000019.9:g.44280532C>G , CM000681.1:g.44280532C>G	GRCh37
NC_000019.8:g.48972372C>G	NCBI36
NG_052672.1:g.10760G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648319.1:c.255+161G>C MANE Select	ENSP00000496939.1:n.255+161G>C
ENST00000262888.7:c.255+161G>C	ENSP00000262888.3:n.255+161G>C
ENST00000599107.1:n.286+161G>C
ENST00000599720.5:c.160-4277G>C	ENSP00000472513.1:n.160-4277G>C
ENST00000615047.4:c.70+161G>C	ENSP00000485014.1:n.70+161G>C
NM_002250.2:c.255+161G>C	NP_002241.1:n.255+161G>C
XM_005258882.2:c.160-1761G>C	XP_005258939.1:n.160-1761G>C
XM_005258883.2:c.70+161G>C	XP_005258940.1:n.70+161G>C
XM_011526938.1:c.255+161G>C	XP_011525240.1:n.255+161G>C
XR_935823.1:n.1533+161G>C
XR_002958313.1:n.1533+161G>C
NM_002250.3:c.255+161G>C MANE Select	NP_002241.1:n.255+161G>C