Canonical Allele Identifier: CA2657290699
Gene: FBLN1 HGNC NCBI

Linked Data

gnomAD v4: 22-45565932-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45565932G>T , CM000684.2:g.45565932G>T GRCh38
NC_000022.10:g.45961812G>T , CM000684.1:g.45961812G>T GRCh37
NC_000022.9:g.44340476G>T NCBI36
NG_023308.2:g.68094G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000327858.11:c.1698-8579G>T MANE Select ENSP00000331544.6:n.1698-8579G>T
ENST00000327858.10:c.1698-8579G>T ENSP00000331544.6:n.1698-8579G>T
NM_006486.2:c.1698-8579G>T NP_006477.2:n.1698-8579G>T
NM_006486.3:c.1698-8579G>T MANE Select NP_006477.3:n.1698-8579G>T
Search 100 bp 5'
Search 100 bp 3'