Canonical Allele Identifier: CA344000927

Gene: F13B

Linked Data

• COSMIC: COSM3689248
• MyVariant Identifiers: chr1:g.197024862G>A (hg19) ; chr1:g.197055732G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197055732G>A , CM000663.2:g.197055732G>A	GRCh38
NC_000001.10:g.197024862G>A , CM000663.1:g.197024862G>A	GRCh37
NC_000001.9:g.195291485G>A	NCBI36
NG_012065.1:g.16536C>T , LRG_550:g.16536C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1337C>T MANE Select	ENSP00000356382.2:p.Ser446Phe
ENST00000649282.1:c.92C>T	ENSP00000497116.1:p.Ser31Phe
ENST00000367412.1:c.1337C>T	ENSP00000356382.1:p.Ser446Phe
NM_001994.2:c.1337C>T , LRG_550t1:c.1337C>T	NP_001985.2:p.Ser446Phe
XM_011509283.1:c.1337C>T	XP_011507585.1:p.Ser446Phe
XM_011509284.1:c.1334C>T	XP_011507586.1:p.Ser445Phe
XM_011509285.1:c.1241C>T	XP_011507587.1:p.Ser414Phe
XM_011509286.1:c.1193C>T	XP_011507588.1:p.Ser398Phe
XM_011509283.2:c.1337C>T	XP_011507585.1:p.Ser446Phe
XM_011509284.2:c.1334C>T	XP_011507586.1:p.Ser445Phe
XM_011509286.2:c.1193C>T	XP_011507588.1:p.Ser398Phe
NM_001994.3:c.1337C>T MANE Select	NP_001985.2:p.Ser446Phe