Canonical Allele Identifier: CA280619503
Gene:

Linked Data

dbSNP Id: rs1004016466
gnomAD v2: 16-31102084-C-A
gnomAD v3: 16-31090763-C-A
gnomAD v4: 16-31090763-C-A
MyVariant Identifiers: chr16:g.31102084C>A (hg19) chr16:g.31090763C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31090763C>A , CM000678.2:g.31090763C>A GRCh38
NC_000016.9:g.31102084C>A , CM000678.1:g.31102084C>A GRCh37
NC_000016.8:g.31009585C>A NCBI36
NG_011564.1:g.9193G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000529564.1:c.283+2549G>T ENSP00000431371.1:n.283+2549G>T
ENST00000532364.1:c.173+3794G>T ENSP00000460316.1:n.173+3794G>T
ENST00000533518.5:c.407+329G>T
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