Canonical Allele Identifier: CA352642744

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48568782-G-C
• MyVariant Identifiers: chr3:g.48606215G>C (hg19) ; chr3:g.48568782G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568782G>C , CM000665.2:g.48568782G>C	GRCh38
NC_000003.11:g.48606215G>C , CM000665.1:g.48606215G>C	GRCh37
NC_000003.10:g.48581219G>C	NCBI36
NG_007065.1:g.31471C>G , LRG_286:g.31471C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7758+2C>G MANE Select	ENSP00000506558.1:n.7758+2C>G
ENST00000328333.12:c.7758+2C>G	ENSP00000332371.8:n.7758+2C>G
ENST00000459756.5:n.581+2C>G
ENST00000467985.1:n.604+2C>G
ENST00000487017.5:n.4397+2C>G
NM_000094.3:c.7758+2C>G , LRG_286t1:c.7758+2C>G	NP_000085.1:n.7758+2C>G
XM_011533336.1:c.7785+2C>G	XP_011531638.1:n.7785+2C>G
XM_011533337.1:c.7758+2C>G	XP_011531639.1:n.7758+2C>G
XM_011533338.1:c.7725+2C>G	XP_011531640.1:n.7725+2C>G
XM_011533339.1:c.7785+2C>G	XP_011531641.1:n.7785+2C>G
XR_940369.1:n.7821+2C>G
XR_940370.1:n.7821+2C>G
XR_940371.1:n.7821+2C>G
XR_940372.1:n.7795+2C>G
XM_017005688.1:c.7698+2C>G	XP_016861177.1:n.7698+2C>G
XM_017005689.1:c.7758+2C>G	XP_016861178.1:n.7758+2C>G
XR_001740003.1:n.7794+2C>G
XR_001740004.1:n.7794+2C>G
XR_001740005.1:n.7794+2C>G
XR_001740006.1:n.7768+2C>G
NM_000094.4:c.7758+2C>G MANE Select	NP_000085.1:n.7758+2C>G