Canonical Allele Identifier: CA16607804
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 392910
ClinVar RCV Id: RCV000437531
dbSNP Id: rs1057524697
MyVariant Identifiers: chr15:g.48752454C>A (hg19) chr15:g.48460257C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48460257C>A , CM000677.2:g.48460257C>A GRCh38
NC_000015.9:g.48752454C>A , CM000677.1:g.48752454C>A GRCh37
NC_000015.8:g.46539746C>A NCBI36
NG_008805.2:g.190532G>T , LRG_778:g.190532G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.5285G>T ENSP00000453958.2:p.Gly1762Val
ENST00000674301.2:c.5285G>T ENSP00000501333.2:p.Gly1762Val
ENST00000684448.1:n.3959G>T
ENST00000316623.10:c.5285G>T MANE Select ENSP00000325527.5:p.Gly1762Val
ENST00000674301.1:c.284G>T ENSP00000501333.1:p.Gly95Val
ENST00000316623.9:c.5285G>T ENSP00000325527.5:p.Gly1762Val
ENST00000537463.6:c.*1048G>T ENSP00000440294.2:n.*1048G>T
ENST00000559133.5:c.592G>T
NM_000138.4:c.5285G>T , LRG_778t1:c.5285G>T NP_000129.3:p.Gly1762Val
NM_000138.5:c.5285G>T MANE Select NP_000129.3:p.Gly1762Val
Search 100 bp 5'
Search 100 bp 3'