Canonical Allele Identifier: CA28895508

Gene: KCND3

Linked Data

• ClinVar Variation Id: 1197975
• ClinVar RCV Id: RCV001561984
• dbSNP Id: rs72548736
• gnomAD v2: 1-112318474-A-G
• gnomAD v3: 1-111775852-A-G
• gnomAD v4: 1-111775852-A-G
• MyVariant Identifiers: chr1:g.112318474A>G (hg19) ; chr1:g.111775852A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111775852A>G , CM000663.2:g.111775852A>G	GRCh38
NC_000001.10:g.112318474A>G , CM000663.1:g.112318474A>G	GRCh37
NC_000001.9:g.112119997A>G	NCBI36
NG_032011.2:g.218304T>C , LRG_445:g.218304T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302127.5:c.*225T>C MANE Select	ENSP00000306923.4:n.*225T>C
ENST00000302127.4:c.*225T>C	ENSP00000306923.3:n.*225T>C
ENST00000315987.6:c.*225T>C	ENSP00000319591.2:n.*225T>C
ENST00000369697.5:c.*225T>C	ENSP00000358711.1:n.*225T>C
NM_004980.4:c.*225T>C , LRG_445t1:c.*225T>C	NP_004971.2:n.*225T>C
NM_172198.2:c.*225T>C	NP_751948.1:n.*225T>C
XM_005270851.3:c.*225T>C	XP_005270908.1:n.*225T>C
XM_006710629.2:c.*225T>C	XP_006710692.1:n.*225T>C
XM_006710630.2:c.*225T>C	XP_006710693.1:n.*225T>C
XM_005270851.4:c.*225T>C	XP_005270908.1:n.*225T>C
XM_006710629.4:c.*225T>C	XP_006710692.1:n.*225T>C
XM_006710630.3:c.*225T>C	XP_006710693.1:n.*225T>C
XM_017001244.2:c.*225T>C	XP_016856733.1:n.*225T>C
NM_001378969.1:c.*225T>C MANE Select	NP_001365898.1:n.*225T>C
NM_001378970.1:c.*225T>C	NP_001365899.1:n.*225T>C
NM_004980.5:c.*225T>C	NP_004971.2:n.*225T>C
NM_172198.3:c.*225T>C	NP_751948.1:n.*225T>C