Canonical Allele Identifier: CA076033

Gene: COL3A1

Linked Data

• dbSNP Id: rs778981213
• ExAC: 2:189872322 C / T
• MyVariant Identifiers: chr2:g.189872322C>T (hg19) ; chr2:g.189007596C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189007596C>T , CM000664.2:g.189007596C>T	GRCh38
NC_000002.11:g.189872322C>T , CM000664.1:g.189872322C>T	GRCh37
NC_000002.10:g.189580567C>T	NCBI36
NG_007404.1:g.38224C>T , LRG_3:g.38224C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3253C>T	ENSP00000415346.2:p.Pro1085Ser
ENST00000304636.9:c.3352C>T MANE Select	ENSP00000304408.4:p.Pro1118Ser
ENST00000304636.7:c.3352C>T	ENSP00000304408.3:p.Pro1118Ser
ENST00000317840.9:c.2528-458C>T	ENSP00000315243.6:n.2528-458C>T
NM_000090.3:c.3352C>T , LRG_3t1:c.3352C>T	NP_000081.1:p.Pro1118Ser
NM_000090.4:c.3352C>T MANE Select	NP_000081.2:p.Pro1118Ser