Canonical Allele Identifier: CA10650892
Gene: SNAP29 HGNC NCBI

Linked Data

ClinVar Variation Id: 340838
ClinVar RCV Id: RCV000369346 RCV001712130
dbSNP Id: rs3171741
gnomAD v2: 22-21242247-G-C
gnomAD v3: 22-20887959-G-C
gnomAD v4: 22-20887959-G-C
MyVariant Identifiers: chr22:g.21242247G>C (hg19) chr22:g.20887959G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20887959G>C , CM000684.2:g.20887959G>C GRCh38
NC_000022.10:g.21242247G>C , CM000684.1:g.21242247G>C GRCh37
NC_000022.9:g.19572247G>C NCBI36
NG_012152.1:g.33956G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000215730.12:c.*123G>C MANE Select ENSP00000215730.6:n.*123G>C
ENST00000215730.11:c.*123G>C ENSP00000215730.6:n.*123G>C
NM_004782.3:c.*123G>C NP_004773.1:n.*123G>C
NM_004782.4:c.*123G>C MANE Select NP_004773.1:n.*123G>C
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