Canonical Allele Identifier: CA392333201

Gene: FBN1

Linked Data

• ClinVar Variation Id: 3075471
• ClinVar RCV Id: RCV004016989
• MyVariant Identifiers: chr15:g.48725070C>G (hg19) ; chr15:g.48432873C>G (hg38)

Genomic Alleles

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

Transcript Alleles

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