Canonical Allele Identifier: CA352643099

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48568822-C-G
• MyVariant Identifiers: chr3:g.48606255C>G (hg19) ; chr3:g.48568822C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568822C>G , CM000665.2:g.48568822C>G	GRCh38
NC_000003.11:g.48606255C>G , CM000665.1:g.48606255C>G	GRCh37
NC_000003.10:g.48581259C>G	NCBI36
NG_007065.1:g.31431G>C , LRG_286:g.31431G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7720G>C MANE Select	ENSP00000506558.1:p.Ala2574Pro
ENST00000328333.12:c.7720G>C	ENSP00000332371.8:p.Ala2574Pro
ENST00000459756.5:n.543G>C
ENST00000467985.1:n.566G>C
ENST00000487017.5:n.4359G>C
NM_000094.3:c.7720G>C , LRG_286t1:c.7720G>C	NP_000085.1:p.Ala2574Pro
XM_011533336.1:c.7747G>C	XP_011531638.1:p.Ala2583Pro
XM_011533337.1:c.7720G>C	XP_011531639.1:p.Ala2574Pro
XM_011533338.1:c.7687G>C	XP_011531640.1:p.Ala2563Pro
XM_011533339.1:c.7747G>C	XP_011531641.1:p.Ala2583Pro
XR_940369.1:n.7783G>C
XR_940370.1:n.7783G>C
XR_940371.1:n.7783G>C
XR_940372.1:n.7757G>C
XM_017005688.1:c.7660G>C	XP_016861177.1:p.Ala2554Pro
XM_017005689.1:c.7720G>C	XP_016861178.1:p.Ala2574Pro
XR_001740003.1:n.7756G>C
XR_001740004.1:n.7756G>C
XR_001740005.1:n.7756G>C
XR_001740006.1:n.7730G>C
NM_000094.4:c.7720G>C MANE Select	NP_000085.1:p.Ala2574Pro