Canonical Allele Identifier: CA074143
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs751471411
ExAC: 2:189859280 A / C
gnomAD v2: 2-189859280-A-C
gnomAD v4: 2-188994554-A-C
MyVariant Identifiers: chr2:g.189859280A>C (hg19) chr2:g.188994554A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994554A>C , CM000664.2:g.188994554A>C GRCh38
NC_000002.11:g.189859280A>C , CM000664.1:g.189859280A>C GRCh37
NC_000002.10:g.189567525A>C NCBI36
NG_007404.1:g.25182A>C , LRG_3:g.25182A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1208A>C ENSP00000415346.2:p.Lys403Thr
ENST00000304636.9:c.1307A>C MANE Select ENSP00000304408.4:p.Lys436Thr
ENST00000304636.7:c.1307A>C ENSP00000304408.3:p.Lys436Thr
ENST00000317840.9:c.1307A>C ENSP00000315243.6:p.Lys436Thr
NM_000090.3:c.1307A>C , LRG_3t1:c.1307A>C NP_000081.1:p.Lys436Thr
NM_000090.4:c.1307A>C MANE Select NP_000081.2:p.Lys436Thr
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