Canonical Allele Identifier: CA10706967
Gene: NID1 HGNC NCBI
COSMIC:
COSN6448628 (not active)
MyVariant.info:
GRCh38 chr1:g.236021631T>C
GRCh37 chr1:g.236184931T>C
gnomAD v2:
1:236184931 T / C
gnomAD v3:
1:236021631 T / C
gnomAD v4:
chr1-236021631-T-C
Joint Max Group AF 0.74396986 (EAS)
Genomes Max Group AF 0.74396986 (EAS)
dbSNP:
10754833
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236021631T>C , CM000663.2:g.236021631T>C GRCh38
NC_000001.10:g.236184931T>C , CM000663.1:g.236184931T>C GRCh37
NC_000001.9:g.234251554T>C NCBI36
NG_033228.1:g.48551A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264187.7:c.2128+2439A>G MANE Select ENSP00000264187.6:n.2128+2439A>G
ENST00000264187.6:c.2128+2439A>G ENSP00000264187.6:n.2128+2439A>G
ENST00000366595.7:c.2128+2439A>G ENSP00000355554.3:n.2128+2439A>G
NM_002508.2:c.2128+2439A>G NP_002499.2:n.2128+2439A>G
XM_011544195.1:c.2128+2439A>G XP_011542497.1:n.2128+2439A>G
XM_011544195.3:c.2128+2439A>G XP_011542497.1:n.2128+2439A>G
NM_002508.3:c.2128+2439A>G MANE Select NP_002499.2:n.2128+2439A>G
Search 100 bp 5'
Search 100 bp 3'