Canonical Allele Identifier: CA621876367

Gene:

Linked Data

• dbSNP Id: rs1343432039
• gnomAD v2: 16-31102135-A-C
• gnomAD v3: 16-31090814-A-C
• gnomAD v4: 16-31090814-A-C
• MyVariant Identifiers: chr16:g.31102135A>C (hg19) ; chr16:g.31090814A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31090814A>C , CM000678.2:g.31090814A>C	GRCh38
NC_000016.9:g.31102135A>C , CM000678.1:g.31102135A>C	GRCh37
NC_000016.8:g.31009636A>C	NCBI36
NG_011564.1:g.9142T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529564.1:c.283+2498T>G	ENSP00000431371.1:n.283+2498T>G
ENST00000532364.1:c.173+3743T>G	ENSP00000460316.1:n.173+3743T>G
ENST00000533518.5:c.407+278T>G