Canonical Allele Identifier: CA392333198

Gene: FBN1

Linked Data

• ClinVar Variation Id: 495640
• ClinVar RCV Id: RCV000588140 ; RCV003528200
• dbSNP Id: rs780960909
• MyVariant Identifiers: chr15:g.48725070C>A (hg19) ; chr15:g.48432873C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432873C>A , CM000677.2:g.48432873C>A	GRCh38
NC_000015.9:g.48725070C>A , CM000677.1:g.48725070C>A	GRCh37
NC_000015.8:g.46512362C>A	NCBI36
NG_008805.2:g.217916G>T , LRG_778:g.217916G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6732G>T	ENSP00000453958.2:p.Met2244Ile
ENST00000674301.2:c.*183G>T	ENSP00000501333.2:n.*183G>T
ENST00000682170.1:n.341G>T
ENST00000316623.10:c.6732G>T MANE Select	ENSP00000325527.5:p.Met2244Ile
ENST00000674301.1:c.1836G>T	ENSP00000501333.1:n.1836G>T
ENST00000316623.9:c.6732G>T	ENSP00000325527.5:p.Met2244Ile
ENST00000537463.6:c.*2495G>T	ENSP00000440294.2:n.*2495G>T
ENST00000559133.5:c.2039G>T
ENST00000560720.1:n.19G>T
NM_000138.4:c.6732G>T , LRG_778t1:c.6732G>T	NP_000129.3:p.Met2244Ile
NM_000138.5:c.6732G>T MANE Select	NP_000129.3:p.Met2244Ile