Canonical Allele Identifier: CA046617

Gene: FBN1

Linked Data

• dbSNP Id: rs761246982
• ExAC: 15:48796054 A / G
• gnomAD v2: 15-48796054-A-G
• gnomAD v4: 15-48503857-A-G
• MyVariant Identifiers: chr15:g.48796054A>G (hg19) ; chr15:g.48503857A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503857A>G , CM000677.2:g.48503857A>G	GRCh38
NC_000015.9:g.48796054A>G , CM000677.1:g.48796054A>G	GRCh37
NC_000015.8:g.46583346A>G	NCBI36
NG_008805.2:g.146932T>C , LRG_778:g.146932T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2043T>C	ENSP00000453958.2:p.Ser681=
ENST00000674301.2:c.2043T>C	ENSP00000501333.2:p.Ser681=
ENST00000684448.1:n.717T>C
ENST00000316623.10:c.2043T>C MANE Select	ENSP00000325527.5:p.Ser681=
ENST00000316623.9:c.2043T>C	ENSP00000325527.5:p.Ser681=
ENST00000537463.6:c.637-29207T>C	ENSP00000440294.2:n.637-29207T>C
NM_000138.4:c.2043T>C , LRG_778t1:c.2043T>C	NP_000129.3:p.Ser681=
NM_000138.5:c.2043T>C MANE Select	NP_000129.3:p.Ser681=