Canonical Allele Identifier: CA2577185355
Gene: COL3A1 HGNC NCBI

Linked Data

gnomAD v4: 2-188994145-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994145G>A , CM000664.2:g.188994145G>A GRCh38
NC_000002.11:g.189858871G>A , CM000664.1:g.189858871G>A GRCh37
NC_000002.10:g.189567116G>A NCBI36
NG_007404.1:g.24773G>A , LRG_3:g.24773G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.1095+63G>A ENSP00000415346.2:n.1095+63G>A
ENST00000304636.9:c.1194+63G>A MANE Select ENSP00000304408.4:n.1194+63G>A
ENST00000304636.7:c.1194+63G>A ENSP00000304408.3:n.1194+63G>A
ENST00000317840.9:c.1194+63G>A ENSP00000315243.6:n.1194+63G>A
ENST00000450867.1:c.193+63G>A
NM_000090.3:c.1194+63G>A , LRG_3t1:c.1194+63G>A NP_000081.1:n.1194+63G>A
NM_000090.4:c.1194+63G>A MANE Select NP_000081.2:n.1194+63G>A
Search 100 bp 5'
Search 100 bp 3'