Canonical Allele Identifier: CA10706963
Gene: NID1 HGNC NCBI
COSMIC:
COSN6448624 (not active)
MyVariant.info:
GRCh38 chr1:g.236016569A>G
GRCh37 chr1:g.236179869A>G
gnomAD v2:
1:236179869 A / G
gnomAD v3:
1:236016569 A / G
gnomAD v4:
chr1-236016569-A-G
Joint Max Group AF 0.74404349 (EAS)
Genomes Max Group AF 0.74404349 (EAS)
dbSNP:
3768080
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236016569A>G , CM000663.2:g.236016569A>G GRCh38
NC_000001.10:g.236179869A>G , CM000663.1:g.236179869A>G GRCh37
NC_000001.9:g.234246492A>G NCBI36
NG_033228.1:g.53613T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264187.7:c.2254+579T>C MANE Select ENSP00000264187.6:n.2254+579T>C
ENST00000264187.6:c.2254+579T>C ENSP00000264187.6:n.2254+579T>C
ENST00000366595.7:c.2128+7501T>C ENSP00000355554.3:n.2128+7501T>C
NM_002508.2:c.2254+579T>C NP_002499.2:n.2254+579T>C
XM_011544195.1:c.2129-3009T>C XP_011542497.1:n.2129-3009T>C
XM_011544195.3:c.2129-3009T>C XP_011542497.1:n.2129-3009T>C
NM_002508.3:c.2254+579T>C MANE Select NP_002499.2:n.2254+579T>C
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