Canonical Allele Identifier: CA2657290954
Gene: FBLN1 HGNC NCBI

Linked Data

gnomAD v4: 22-45566033-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45566033G>T , CM000684.2:g.45566033G>T GRCh38
NC_000022.10:g.45961913G>T , CM000684.1:g.45961913G>T GRCh37
NC_000022.9:g.44340577G>T NCBI36
NG_023308.2:g.68195G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000327858.11:c.1698-8478G>T MANE Select ENSP00000331544.6:n.1698-8478G>T
ENST00000327858.10:c.1698-8478G>T ENSP00000331544.6:n.1698-8478G>T
NM_006486.2:c.1698-8478G>T NP_006477.2:n.1698-8478G>T
NM_006486.3:c.1698-8478G>T MANE Select NP_006477.3:n.1698-8478G>T
Search 100 bp 5'
Search 100 bp 3'