Canonical Allele Identifier: CA490017966

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1107415
• ClinVar RCV Id: RCV001432526
• dbSNP Id: rs2141293239
• MyVariant Identifiers: chr15:g.48779345C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487148C>G , CM000677.2:g.48487148C>G	GRCh38
NC_000015.9:g.48779345C>G , CM000677.1:g.48779345C>G	GRCh37
NC_000015.8:g.46566637C>G	NCBI36
NG_008805.2:g.163641G>C , LRG_778:g.163641G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3516G>C	ENSP00000453958.2:p.Val1172=
ENST00000674301.2:c.3516G>C	ENSP00000501333.2:p.Val1172=
ENST00000684448.1:n.2190G>C
ENST00000316623.10:c.3516G>C MANE Select	ENSP00000325527.5:p.Val1172=
ENST00000316623.9:c.3516G>C	ENSP00000325527.5:p.Val1172=
ENST00000537463.6:c.637-12498G>C	ENSP00000440294.2:n.637-12498G>C
NM_000138.4:c.3516G>C , LRG_778t1:c.3516G>C	NP_000129.3:p.Val1172=
NM_000138.5:c.3516G>C MANE Select	NP_000129.3:p.Val1172=