Canonical Allele Identifier: CA15522014
Gene: SDK1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.3875932T>C
GRCh37 chr7:g.3915564T>C
gnomAD v2:
7:3915564 T / C
gnomAD v3:
7:3875932 T / C
gnomAD v4:
chr7-3875932-T-C
Joint Max Group AF 0.63166951 (AFR)
Genomes Max Group AF 0.63166951 (AFR)
dbSNP:
6462411
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.3875932T>C , CM000669.2:g.3875932T>C GRCh38
NC_000007.13:g.3915564T>C , CM000669.1:g.3915564T>C GRCh37
NC_000007.12:g.3882090T>C NCBI36
NG_051298.1:g.579485T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000404826.7:c.847+54349T>C MANE Select ENSP00000385899.2:n.847+54349T>C
ENST00000389531.7:c.847+54349T>C ENSP00000374182.3:n.847+54349T>C
ENST00000404826.6:c.847+54349T>C ENSP00000385899.2:n.847+54349T>C
ENST00000615806.4:c.847+54349T>C ENSP00000478062.1:n.847+54349T>C
NM_152744.3:c.847+54349T>C NP_689957.3:n.847+54349T>C
NM_152744.4:c.847+54349T>C MANE Select NP_689957.3:n.847+54349T>C
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