Canonical Allele Identifier: CA349851648
Gene: COL3A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994558T>G , CM000664.2:g.188994558T>G GRCh38
NC_000002.11:g.189859284T>G , CM000664.1:g.189859284T>G GRCh37
NC_000002.10:g.189567529T>G NCBI36
NG_007404.1:g.25186T>G , LRG_3:g.25186T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1212T>G ENSP00000415346.2:p.Asn404Lys
ENST00000304636.9:c.1311T>G MANE Select ENSP00000304408.4:p.Asn437Lys
ENST00000304636.7:c.1311T>G ENSP00000304408.3:p.Asn437Lys
ENST00000317840.9:c.1311T>G ENSP00000315243.6:p.Asn437Lys
NM_000090.3:c.1311T>G , LRG_3t1:c.1311T>G NP_000081.1:p.Asn437Lys
NM_000090.4:c.1311T>G MANE Select NP_000081.2:p.Asn437Lys