Canonical Allele Identifier: CA2649657827

Gene: F13B

Linked Data

• gnomAD v4: 1-197039330-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039330G>A , CM000663.2:g.197039330G>A	GRCh38
NC_000001.10:g.197008460G>A , CM000663.1:g.197008460G>A	GRCh37
NC_000001.9:g.195275083G>A	NCBI36
NG_012065.1:g.32938C>T , LRG_550:g.32938C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.*48C>T MANE Select	ENSP00000356382.2:n.*48C>T
ENST00000649282.1:c.789C>T	ENSP00000497116.1:n.789C>T
ENST00000367412.1:c.*48C>T	ENSP00000356382.1:n.*48C>T
NM_001994.2:c.*48C>T , LRG_550t1:c.*48C>T	NP_001985.2:n.*48C>T
XM_011509283.2:c.*969C>T	XP_011507585.1:n.*969C>T
XM_011509284.2:c.*969C>T	XP_011507586.1:n.*969C>T
XM_011509286.2:c.*969C>T	XP_011507588.1:n.*969C>T
NM_001994.3:c.*48C>T MANE Select	NP_001985.2:n.*48C>T