Canonical Allele Identifier: CA2662288849
Gene: COL3A1 HGNC NCBI

Linked Data

gnomAD v4: 2-188994153-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994153A>C , CM000664.2:g.188994153A>C GRCh38
NC_000002.11:g.189858879A>C , CM000664.1:g.189858879A>C GRCh37
NC_000002.10:g.189567124A>C NCBI36
NG_007404.1:g.24781A>C , LRG_3:g.24781A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.1095+71A>C ENSP00000415346.2:n.1095+71A>C
ENST00000304636.9:c.1194+71A>C MANE Select ENSP00000304408.4:n.1194+71A>C
ENST00000304636.7:c.1194+71A>C ENSP00000304408.3:n.1194+71A>C
ENST00000317840.9:c.1194+71A>C ENSP00000315243.6:n.1194+71A>C
ENST00000450867.1:c.193+71A>C
NM_000090.3:c.1194+71A>C , LRG_3t1:c.1194+71A>C NP_000081.1:n.1194+71A>C
NM_000090.4:c.1194+71A>C MANE Select NP_000081.2:n.1194+71A>C
Search 100 bp 5'
Search 100 bp 3'