Canonical Allele Identifier: CA135710843

Gene: CDKAL1

Linked Data

• dbSNP Id: rs560835245
• gnomAD v2: 6-20688100-T-C
• gnomAD v3: 6-20687869-T-C
• gnomAD v4: 6-20687869-T-C
• MyVariant Identifiers: chr6:g.20688100T>C (hg19) ; chr6:g.20687869T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.20687869T>C , CM000668.2:g.20687869T>C	GRCh38
NC_000006.11:g.20688100T>C , CM000668.1:g.20688100T>C	GRCh37
NC_000006.10:g.20796079T>C	NCBI36
NG_021195.1:g.158413T>C
NG_021195.2:g.158413T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000274695.8:c.371+38492T>C MANE Select	ENSP00000274695.4:n.371+38492T>C
ENST00000378610.1:c.371+38492T>C	ENSP00000367873.1:n.371+38492T>C
NM_017774.3:c.371+38492T>C MANE Select	NP_060244.2:n.371+38492T>C
XM_006715128.2:c.371+38492T>C	XP_006715191.1:n.371+38492T>C
XM_011514718.1:c.371+38492T>C	XP_011513020.1:n.371+38492T>C
XM_011514719.1:c.371+38492T>C	XP_011513021.1:n.371+38492T>C
XR_926265.1:n.538+38492T>C
XR_926266.1:n.651+38492T>C
XR_926267.1:n.538+38492T>C
XM_011514719.2:c.371+38492T>C	XP_011513021.1:n.371+38492T>C
XM_017010986.1:c.371+38492T>C	XP_016866475.1:n.371+38492T>C
XM_017010987.1:c.-384+38492T>C	XP_016866476.1:n.-384+38492T>C
XM_024446481.1:c.371+38492T>C	XP_024302249.1:n.371+38492T>C
XR_001743495.2:n.543+38492T>C
XR_001743496.2:n.938+38492T>C
XR_001743500.1:n.538+38492T>C
XR_001743501.1:n.538+38492T>C
XR_926265.2:n.538+38492T>C
XR_926266.2:n.651+38492T>C
XR_926267.2:n.538+38492T>C