Canonical Allele Identifier: CA969574394
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2044022244
gnomAD v3: 15-48537468-C-G
gnomAD v4: 15-48537468-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48537468C>G , CM000677.2:g.48537468C>G GRCh38
NC_000015.9:g.48829665C>G , CM000677.1:g.48829665C>G GRCh37
NC_000015.8:g.46616957C>G NCBI36
NG_008805.2:g.113321G>C , LRG_778:g.113321G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.736+143G>C ENSP00000453958.2:n.736+143G>C
ENST00000674301.2:c.736+143G>C ENSP00000501333.2:n.736+143G>C
ENST00000316623.10:c.736+143G>C MANE Select ENSP00000325527.5:n.736+143G>C
ENST00000316623.9:c.736+143G>C ENSP00000325527.5:n.736+143G>C
ENST00000537463.6:c.636+243G>C ENSP00000440294.2:n.636+243G>C
NM_000138.4:c.736+143G>C , LRG_778t1:c.736+143G>C NP_000129.3:n.736+143G>C
NM_000138.5:c.736+143G>C MANE Select NP_000129.3:n.736+143G>C
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