Canonical Allele Identifier: CA621876368

Gene:

Linked Data

• dbSNP Id: rs1346742614
• gnomAD v2: 16-31102148-A-G
• gnomAD v3: 16-31090827-A-G
• gnomAD v4: 16-31090827-A-G
• MyVariant Identifiers: chr16:g.31102148A>G (hg19) ; chr16:g.31090827A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31090827A>G , CM000678.2:g.31090827A>G	GRCh38
NC_000016.9:g.31102148A>G , CM000678.1:g.31102148A>G	GRCh37
NC_000016.8:g.31009649A>G	NCBI36
NG_011564.1:g.9129T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529564.1:c.283+2485T>C	ENSP00000431371.1:n.283+2485T>C
ENST00000532364.1:c.173+3730T>C	ENSP00000460316.1:n.173+3730T>C
ENST00000533518.5:c.407+265T>C