Canonical Allele Identifier: CA352643133

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48568825-A-G
• MyVariant Identifiers: chr3:g.48606258A>G (hg19) ; chr3:g.48568825A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568825A>G , CM000665.2:g.48568825A>G	GRCh38
NC_000003.11:g.48606258A>G , CM000665.1:g.48606258A>G	GRCh37
NC_000003.10:g.48581262A>G	NCBI36
NG_007065.1:g.31428T>C , LRG_286:g.31428T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7717T>C MANE Select	ENSP00000506558.1:p.Ser2573Pro
ENST00000328333.12:c.7717T>C	ENSP00000332371.8:p.Ser2573Pro
ENST00000459756.5:n.540T>C
ENST00000467985.1:n.563T>C
ENST00000487017.5:n.4356T>C
NM_000094.3:c.7717T>C , LRG_286t1:c.7717T>C	NP_000085.1:p.Ser2573Pro
XM_011533336.1:c.7744T>C	XP_011531638.1:p.Ser2582Pro
XM_011533337.1:c.7717T>C	XP_011531639.1:p.Ser2573Pro
XM_011533338.1:c.7684T>C	XP_011531640.1:p.Ser2562Pro
XM_011533339.1:c.7744T>C	XP_011531641.1:p.Ser2582Pro
XR_940369.1:n.7780T>C
XR_940370.1:n.7780T>C
XR_940371.1:n.7780T>C
XR_940372.1:n.7754T>C
XM_017005688.1:c.7657T>C	XP_016861177.1:p.Ser2553Pro
XM_017005689.1:c.7717T>C	XP_016861178.1:p.Ser2573Pro
XR_001740003.1:n.7753T>C
XR_001740004.1:n.7753T>C
XR_001740005.1:n.7753T>C
XR_001740006.1:n.7727T>C
NM_000094.4:c.7717T>C MANE Select	NP_000085.1:p.Ser2573Pro