Canonical Allele Identifier: CA358515058

Gene: FGB

Linked Data

• gnomAD v4: 4-154569641-G-T
• COSMIC: COSM281143
• MyVariant Identifiers: chr4:g.155490793G>T (hg19) ; chr4:g.154569641G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154569641G>T , CM000666.2:g.154569641G>T	GRCh38
NC_000004.11:g.155490793G>T , CM000666.1:g.155490793G>T	GRCh37
NC_000004.10:g.155710243G>T	NCBI36
NG_008833.1:g.11662G>T , LRG_558:g.11662G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302068.9:c.1086G>T MANE Select	ENSP00000306099.4:p.Gln362His
ENST00000302068.8:c.1086G>T	ENSP00000306099.4:p.Gln362His
ENST00000502545.5:n.939+334G>T
ENST00000509493.1:c.429G>T	ENSP00000426757.1:p.Gln143His
NM_001184741.1:c.909G>T	NP_001171670.1:p.Gln303His
NM_005141.4:c.1086G>T , LRG_558t1:c.1086G>T	NP_005132.2:p.Gln362His
NM_001382759.1:c.954G>T	NP_001369688.1:p.Gln318His
NM_001382760.1:c.1086G>T	NP_001369689.1:p.Gln362His
NM_001382761.1:c.1086G>T	NP_001369690.1:p.Gln362His
NM_001382762.1:c.786G>T	NP_001369691.1:p.Gln262His
NM_001382763.1:c.1077G>T	NP_001369692.1:p.Gln359His
NM_001382764.1:c.1080+6G>T	NP_001369693.1:n.1080+6G>T
NM_001382765.1:c.1086G>T	NP_001369694.1:p.Gln362His
NM_005141.5:c.1086G>T MANE Select	NP_005132.2:p.Gln362His