Canonical Allele Identifier: CA638362065
Gene: GNB1L HGNC NCBI

Linked Data

dbSNP Id: rs1420270139
gnomAD v2: 22-19784812-C-G
gnomAD v3: 22-19797289-C-G
gnomAD v4: 22-19797289-C-G
MyVariant Identifiers: chr22:g.19784812C>G (hg19) chr22:g.19797289C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19797289C>G , CM000684.2:g.19797289C>G GRCh38
NC_000022.10:g.19784812C>G , CM000684.1:g.19784812C>G GRCh37
NC_000022.9:g.18164812C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000329517.11:c.732+4712G>C MANE Select ENSP00000331313.6:n.732+4712G>C
ENST00000329517.10:c.732+4712G>C ENSP00000331313.6:n.732+4712G>C
ENST00000403325.5:c.732+4712G>C ENSP00000385154.1:n.732+4712G>C
ENST00000405009.5:c.630+4814G>C ENSP00000384626.1:n.630+4814G>C
ENST00000460402.5:n.700+4712G>C
NM_053004.2:c.732+4712G>C NP_443730.1:n.732+4712G>C
NM_053004.3:c.732+4712G>C MANE Select NP_443730.1:n.732+4712G>C
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