Canonical Allele Identifier: CA344000890

Gene: F13B

Linked Data

• MyVariant Identifiers: chr1:g.197024853A>C (hg19) ; chr1:g.197055723A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197055723A>C , CM000663.2:g.197055723A>C	GRCh38
NC_000001.10:g.197024853A>C , CM000663.1:g.197024853A>C	GRCh37
NC_000001.9:g.195291476A>C	NCBI36
NG_012065.1:g.16545T>G , LRG_550:g.16545T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1346T>G MANE Select	ENSP00000356382.2:p.Val449Gly
ENST00000649282.1:c.101T>G	ENSP00000497116.1:p.Val34Gly
ENST00000367412.1:c.1346T>G	ENSP00000356382.1:p.Val449Gly
NM_001994.2:c.1346T>G , LRG_550t1:c.1346T>G	NP_001985.2:p.Val449Gly
XM_011509283.1:c.1346T>G	XP_011507585.1:p.Val449Gly
XM_011509284.1:c.1343T>G	XP_011507586.1:p.Val448Gly
XM_011509285.1:c.1250T>G	XP_011507587.1:p.Val417Gly
XM_011509286.1:c.1202T>G	XP_011507588.1:p.Val401Gly
XM_011509283.2:c.1346T>G	XP_011507585.1:p.Val449Gly
XM_011509284.2:c.1343T>G	XP_011507586.1:p.Val448Gly
XM_011509286.2:c.1202T>G	XP_011507588.1:p.Val401Gly
NM_001994.3:c.1346T>G MANE Select	NP_001985.2:p.Val449Gly