Canonical Allele Identifier: CA566062701

Gene: CDKAL1

Linked Data

• dbSNP Id: rs1344193184
• gnomAD v2: 6-20812638-G-C
• gnomAD v3: 6-20812407-G-C
• gnomAD v4: 6-20812407-G-C
• MyVariant Identifiers: chr6:g.20812638G>C (hg19) ; chr6:g.20812407G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.20812407G>C , CM000668.2:g.20812407G>C	GRCh38
NC_000006.11:g.20812638G>C , CM000668.1:g.20812638G>C	GRCh37
NC_000006.10:g.20920617G>C	NCBI36
NG_021195.1:g.282951G>C
NG_021195.2:g.282951G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274695.8:c.638+31142G>C MANE Select	ENSP00000274695.4:n.638+31142G>C
ENST00000378610.1:c.638+31142G>C	ENSP00000367873.1:n.638+31142G>C
NM_017774.3:c.638+31142G>C MANE Select	NP_060244.2:n.638+31142G>C
XM_006715128.2:c.638+31142G>C	XP_006715191.1:n.638+31142G>C
XM_011514718.1:c.638+31142G>C	XP_011513020.1:n.638+31142G>C
XM_011514719.1:c.638+31142G>C	XP_011513021.1:n.638+31142G>C
XR_926265.1:n.805+31142G>C
XR_926266.1:n.918+31142G>C
XR_926267.1:n.805+31142G>C
XM_011514719.2:c.638+31142G>C	XP_011513021.1:n.638+31142G>C
XM_017010986.1:c.638+31142G>C	XP_016866475.1:n.638+31142G>C
XM_017010987.1:c.-117+31142G>C	XP_016866476.1:n.-117+31142G>C
XM_024446481.1:c.638+31142G>C	XP_024302249.1:n.638+31142G>C
XR_001743495.2:n.810+31142G>C
XR_001743496.2:n.1205+31142G>C
XR_001743498.2:n.2537+31142G>C
XR_001743500.1:n.805+31142G>C
XR_001743501.1:n.805+31142G>C
XR_926265.2:n.805+31142G>C
XR_926266.2:n.918+31142G>C
XR_926267.2:n.805+31142G>C