Canonical Allele Identifier: CA108751729

Gene: FGB

Linked Data

• dbSNP Id: rs62637604
• gnomAD v4: 4-154569745-T-C
• MyVariant Identifiers: chr4:g.155490897T>C (hg19) ; chr4:g.154569745T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154569745T>C , CM000666.2:g.154569745T>C	GRCh38
NC_000004.11:g.155490897T>C , CM000666.1:g.155490897T>C	GRCh37
NC_000004.10:g.155710347T>C	NCBI36
NG_008833.1:g.11766T>C , LRG_558:g.11766T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302068.9:c.1190T>C MANE Select	ENSP00000306099.4:p.Met397Thr
ENST00000302068.8:c.1190T>C	ENSP00000306099.4:p.Met397Thr
ENST00000502545.5:n.939+438T>C
ENST00000509493.1:c.533T>C	ENSP00000426757.1:p.Met178Thr
NM_001184741.1:c.1013T>C	NP_001171670.1:p.Met338Thr
NM_005141.4:c.1190T>C , LRG_558t1:c.1190T>C	NP_005132.2:p.Met397Thr
NM_001382759.1:c.1058T>C	NP_001369688.1:p.Met353Thr
NM_001382760.1:c.1190T>C	NP_001369689.1:p.Met397Thr
NM_001382761.1:c.1190T>C	NP_001369690.1:p.Met397Thr
NM_001382762.1:c.890T>C	NP_001369691.1:p.Met297Thr
NM_001382763.1:c.1181T>C	NP_001369692.1:p.Met394Thr
NM_001382764.1:c.1081-28T>C	NP_001369693.1:n.1081-28T>C
NM_001382765.1:c.1190T>C	NP_001369694.1:p.Met397Thr
NM_005141.5:c.1190T>C MANE Select	NP_005132.2:p.Met397Thr