Canonical Allele Identifier: CA344000909

Gene: F13B

Linked Data

• gnomAD v4: 1-197055727-G-A
• MyVariant Identifiers: chr1:g.197024857G>A (hg19) ; chr1:g.197055727G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197055727G>A , CM000663.2:g.197055727G>A	GRCh38
NC_000001.10:g.197024857G>A , CM000663.1:g.197024857G>A	GRCh37
NC_000001.9:g.195291480G>A	NCBI36
NG_012065.1:g.16541C>T , LRG_550:g.16541C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1342C>T MANE Select	ENSP00000356382.2:p.Pro448Ser
ENST00000649282.1:c.97C>T	ENSP00000497116.1:p.Pro33Ser
ENST00000367412.1:c.1342C>T	ENSP00000356382.1:p.Pro448Ser
NM_001994.2:c.1342C>T , LRG_550t1:c.1342C>T	NP_001985.2:p.Pro448Ser
XM_011509283.1:c.1342C>T	XP_011507585.1:p.Pro448Ser
XM_011509284.1:c.1339C>T	XP_011507586.1:p.Pro447Ser
XM_011509285.1:c.1246C>T	XP_011507587.1:p.Pro416Ser
XM_011509286.1:c.1198C>T	XP_011507588.1:p.Pro400Ser
XM_011509283.2:c.1342C>T	XP_011507585.1:p.Pro448Ser
XM_011509284.2:c.1339C>T	XP_011507586.1:p.Pro447Ser
XM_011509286.2:c.1198C>T	XP_011507588.1:p.Pro400Ser
NM_001994.3:c.1342C>T MANE Select	NP_001985.2:p.Pro448Ser