Canonical Allele Identifier: CA014768

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42348
• ClinVar RCV Id: RCV000035187 ; RCV001343735 ; RCV003528139 ; RCV003996188
• dbSNP Id: rs370923981
• ExAC: 15:48766556 T / C
• gnomAD v2: 15-48766556-T-C
• gnomAD v3: 15-48474359-T-C
• gnomAD v4: 15-48474359-T-C
• MyVariant Identifiers: chr15:g.48766556T>C (hg19) ; chr15:g.48474359T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48474359T>C , CM000677.2:g.48474359T>C	GRCh38
NC_000015.9:g.48766556T>C , CM000677.1:g.48766556T>C	GRCh37
NC_000015.8:g.46553848T>C	NCBI36
NG_008805.2:g.176430A>G , LRG_778:g.176430A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4106A>G	ENSP00000453958.2:p.Asn1369Ser
ENST00000674301.2:c.4106A>G	ENSP00000501333.2:p.Asn1369Ser
ENST00000684448.1:n.2780A>G
ENST00000316623.10:c.4106A>G MANE Select	ENSP00000325527.5:p.Asn1369Ser
ENST00000316623.9:c.4106A>G	ENSP00000325527.5:p.Asn1369Ser
ENST00000537463.6:c.778A>G	ENSP00000440294.2:p.Met260Val
NM_000138.4:c.4106A>G , LRG_778t1:c.4106A>G	NP_000129.3:p.Asn1369Ser
NM_000138.5:c.4106A>G MANE Select	NP_000129.3:p.Asn1369Ser