Canonical Allele Identifier: CA430313142
Gene: COL3A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189006972-T-C
MyVariant Identifiers: chr2:g.189871698T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189006972T>C , CM000664.2:g.189006972T>C GRCh38
NC_000002.11:g.189871698T>C , CM000664.1:g.189871698T>C GRCh37
NC_000002.10:g.189579943T>C NCBI36
NG_007404.1:g.37600T>C , LRG_3:g.37600T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3138T>C ENSP00000415346.2:p.Ala1046=
ENST00000304636.9:c.3237T>C MANE Select ENSP00000304408.4:p.Ala1079=
ENST00000304636.7:c.3237T>C ENSP00000304408.3:p.Ala1079=
ENST00000317840.9:c.2528-1082T>C ENSP00000315243.6:n.2528-1082T>C
NM_000090.3:c.3237T>C , LRG_3t1:c.3237T>C NP_000081.1:p.Ala1079=
NM_000090.4:c.3237T>C MANE Select NP_000081.2:p.Ala1079=
Search 100 bp 5'
Search 100 bp 3'