Canonical Allele Identifier: CA280619515

Gene:

Linked Data

• dbSNP Id: rs986581892
• gnomAD v2: 16-31102123-C-T
• gnomAD v3: 16-31090802-C-T
• gnomAD v4: 16-31090802-C-T
• MyVariant Identifiers: chr16:g.31102123C>T (hg19) ; chr16:g.31090802C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31090802C>T , CM000678.2:g.31090802C>T	GRCh38
NC_000016.9:g.31102123C>T , CM000678.1:g.31102123C>T	GRCh37
NC_000016.8:g.31009624C>T	NCBI36
NG_011564.1:g.9154G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529564.1:c.283+2510G>A	ENSP00000431371.1:n.283+2510G>A
ENST00000532364.1:c.173+3755G>A	ENSP00000460316.1:n.173+3755G>A
ENST00000533518.5:c.407+290G>A