Canonical Allele Identifier: CA719892300

Gene:

Linked Data

• dbSNP Id: rs1453699810
• gnomAD v3: 16-31090810-G-T
• gnomAD v4: 16-31090810-G-T
• MyVariant Identifiers: chr16:g.31102131G>T (hg19) ; chr16:g.31090810G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31090810G>T , CM000678.2:g.31090810G>T	GRCh38
NC_000016.9:g.31102131G>T , CM000678.1:g.31102131G>T	GRCh37
NC_000016.8:g.31009632G>T	NCBI36
NG_011564.1:g.9146C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529564.1:c.283+2502C>A	ENSP00000431371.1:n.283+2502C>A
ENST00000532364.1:c.173+3747C>A	ENSP00000460316.1:n.173+3747C>A
ENST00000533518.5:c.407+282C>A