Canonical Allele Identifier: CA621876364
Gene:

Linked Data

dbSNP Id: rs1408399813
gnomAD v2: 16-31102096-C-G
gnomAD v3: 16-31090775-C-G
gnomAD v4: 16-31090775-C-G
MyVariant Identifiers: chr16:g.31102096C>G (hg19) chr16:g.31090775C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31090775C>G , CM000678.2:g.31090775C>G GRCh38
NC_000016.9:g.31102096C>G , CM000678.1:g.31102096C>G GRCh37
NC_000016.8:g.31009597C>G NCBI36
NG_011564.1:g.9181G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000529564.1:c.283+2537G>C ENSP00000431371.1:n.283+2537G>C
ENST00000532364.1:c.173+3782G>C ENSP00000460316.1:n.173+3782G>C
ENST00000533518.5:c.407+317G>C
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