Canonical Allele Identifier: CA1308404

Gene: F13B

Linked Data

• ClinVar Variation Id: 294577
• ClinVar RCV Id: RCV000260264
• dbSNP Id: rs755966271
• ExAC: 1:197026169 T / C
• gnomAD v2: 1-197026169-T-C
• gnomAD v3: 1-197057039-T-C
• gnomAD v4: 1-197057039-T-C
• MyVariant Identifiers: chr1:g.197026169T>C (hg19) ; chr1:g.197057039T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197057039T>C , CM000663.2:g.197057039T>C	GRCh38
NC_000001.10:g.197026169T>C , CM000663.1:g.197026169T>C	GRCh37
NC_000001.9:g.195292792T>C	NCBI36
NG_012065.1:g.15229A>G , LRG_550:g.15229A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1145A>G MANE Select	ENSP00000356382.2:p.Lys382Arg
ENST00000367412.1:c.1145A>G	ENSP00000356382.1:p.Lys382Arg
NM_001994.2:c.1145A>G , LRG_550t1:c.1145A>G	NP_001985.2:p.Lys382Arg
XM_011509283.1:c.1145A>G	XP_011507585.1:p.Lys382Arg
XM_011509284.1:c.1142A>G	XP_011507586.1:p.Lys381Arg
XM_011509285.1:c.1049A>G	XP_011507587.1:p.Lys350Arg
XM_011509286.1:c.1001A>G	XP_011507588.1:p.Lys334Arg
XM_011509283.2:c.1145A>G	XP_011507585.1:p.Lys382Arg
XM_011509284.2:c.1142A>G	XP_011507586.1:p.Lys381Arg
XM_011509286.2:c.1001A>G	XP_011507588.1:p.Lys334Arg
NM_001994.3:c.1145A>G MANE Select	NP_001985.2:p.Lys382Arg