Canonical Allele Identifier: CA10609201

Gene: F13B

Linked Data

• ClinVar Variation Id: 294567
• ClinVar RCV Id: RCV000393535
• dbSNP Id: rs17549873
• gnomAD v2: 1-197008419-C-G
• gnomAD v3: 1-197039289-C-G
• gnomAD v4: 1-197039289-C-G
• MyVariant Identifiers: chr1:g.197008419C>G (hg19) ; chr1:g.197039289C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039289C>G , CM000663.2:g.197039289C>G	GRCh38
NC_000001.10:g.197008419C>G , CM000663.1:g.197008419C>G	GRCh37
NC_000001.9:g.195275042C>G	NCBI36
NG_012065.1:g.32979G>C , LRG_550:g.32979G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367412.2:c.*89G>C MANE Select	ENSP00000356382.2:n.*89G>C
ENST00000649282.1:c.830G>C	ENSP00000497116.1:n.830G>C
ENST00000367412.1:c.*89G>C	ENSP00000356382.1:n.*89G>C
NM_001994.2:c.*89G>C , LRG_550t1:c.*89G>C	NP_001985.2:n.*89G>C
XM_011509283.2:c.*1010G>C	XP_011507585.1:n.*1010G>C
XM_011509284.2:c.*1010G>C	XP_011507586.1:n.*1010G>C
XM_011509286.2:c.*1010G>C	XP_011507588.1:n.*1010G>C
NM_001994.3:c.*89G>C MANE Select	NP_001985.2:n.*89G>C