Canonical Allele Identifier: CA1308350

Gene: F13B

Linked Data

• dbSNP Id: rs762656518
• ExAC: 1:197024856 G / C
• gnomAD v2: 1-197024856-G-C
• gnomAD v4: 1-197055726-G-C
• MyVariant Identifiers: chr1:g.197024856G>C (hg19) ; chr1:g.197055726G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197055726G>C , CM000663.2:g.197055726G>C	GRCh38
NC_000001.10:g.197024856G>C , CM000663.1:g.197024856G>C	GRCh37
NC_000001.9:g.195291479G>C	NCBI36
NG_012065.1:g.16542C>G , LRG_550:g.16542C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1343C>G MANE Select	ENSP00000356382.2:p.Pro448Arg
ENST00000649282.1:c.98C>G	ENSP00000497116.1:p.Pro33Arg
ENST00000367412.1:c.1343C>G	ENSP00000356382.1:p.Pro448Arg
NM_001994.2:c.1343C>G , LRG_550t1:c.1343C>G	NP_001985.2:p.Pro448Arg
XM_011509283.1:c.1343C>G	XP_011507585.1:p.Pro448Arg
XM_011509284.1:c.1340C>G	XP_011507586.1:p.Pro447Arg
XM_011509285.1:c.1247C>G	XP_011507587.1:p.Pro416Arg
XM_011509286.1:c.1199C>G	XP_011507588.1:p.Pro400Arg
XM_011509283.2:c.1343C>G	XP_011507585.1:p.Pro448Arg
XM_011509284.2:c.1340C>G	XP_011507586.1:p.Pro447Arg
XM_011509286.2:c.1199C>G	XP_011507588.1:p.Pro400Arg
NM_001994.3:c.1343C>G MANE Select	NP_001985.2:p.Pro448Arg