Canonical Allele Identifier: CA249336
Gene: NID1 HGNC NCBI

Linked Data

ClinVar Variation Id: 218612
ClinVar RCV Id: RCV000203134
dbSNP Id: rs147665041
ExAC: 1:236157150 C / G
gnomAD v2: 1-236157150-C-G
gnomAD v3: 1-235993850-C-G
gnomAD v4: 1-235993850-C-G
COSMIC: COSM3689449
MyVariant Identifiers: chr1:g.236157150C>G (hg19) chr1:g.235993850C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235993850C>G , CM000663.2:g.235993850C>G GRCh38
NC_000001.10:g.236157150C>G , CM000663.1:g.236157150C>G GRCh37
NC_000001.9:g.234223773C>G NCBI36
NG_033228.1:g.76332G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264187.7:c.2550G>C MANE Select ENSP00000264187.6:p.Gln850His
ENST00000264187.6:c.2550G>C ENSP00000264187.6:p.Gln850His
ENST00000366595.7:c.2151G>C ENSP00000355554.3:p.Gln717His
NM_002508.2:c.2550G>C NP_002499.2:p.Gln850His
XM_011544195.1:c.2424G>C XP_011542497.1:p.Gln808His
XM_011544195.3:c.2424G>C XP_011542497.1:p.Gln808His
NM_002508.3:c.2550G>C MANE Select NP_002499.2:p.Gln850His
Search 100 bp 5'
Search 100 bp 3'