Canonical Allele Identifier: CA2577185924
Gene: COL3A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189007424-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007424A>T , CM000664.2:g.189007424A>T GRCh38
NC_000002.11:g.189872150A>T , CM000664.1:g.189872150A>T GRCh37
NC_000002.10:g.189580395A>T NCBI36
NG_007404.1:g.38052A>T , LRG_3:g.38052A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3157-76A>T ENSP00000415346.2:n.3157-76A>T
ENST00000304636.9:c.3256-76A>T MANE Select ENSP00000304408.4:n.3256-76A>T
ENST00000304636.7:c.3256-76A>T ENSP00000304408.3:n.3256-76A>T
ENST00000317840.9:c.2528-630A>T ENSP00000315243.6:n.2528-630A>T
NM_000090.3:c.3256-76A>T , LRG_3t1:c.3256-76A>T NP_000081.1:n.3256-76A>T
NM_000090.4:c.3256-76A>T MANE Select NP_000081.2:n.3256-76A>T
Search 100 bp 5'
Search 100 bp 3'