Canonical Allele Identifier: CA542788265

Gene: COL7A1

Linked Data

• dbSNP Id: rs774931257
• gnomAD v2: 3-48605921-G-C
• gnomAD v4: 3-48568488-G-C
• MyVariant Identifiers: chr3:g.48605921G>C (hg19) ; chr3:g.48568488G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568488G>C , CM000665.2:g.48568488G>C	GRCh38
NC_000003.11:g.48605921G>C , CM000665.1:g.48605921G>C	GRCh37
NC_000003.10:g.48580925G>C	NCBI36
NG_007065.1:g.31765C>G , LRG_286:g.31765C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7794+11C>G MANE Select	ENSP00000506558.1:n.7794+11C>G
ENST00000328333.12:c.7794+11C>G	ENSP00000332371.8:n.7794+11C>G
ENST00000459756.5:n.617+11C>G
ENST00000467985.1:n.640+11C>G
ENST00000487017.5:n.4433+11C>G
NM_000094.3:c.7794+11C>G , LRG_286t1:c.7794+11C>G	NP_000085.1:n.7794+11C>G
XM_011533336.1:c.7821+11C>G	XP_011531638.1:n.7821+11C>G
XM_011533337.1:c.7794+11C>G	XP_011531639.1:n.7794+11C>G
XM_011533338.1:c.7761+11C>G	XP_011531640.1:n.7761+11C>G
XM_011533339.1:c.7821+11C>G	XP_011531641.1:n.7821+11C>G
XR_940369.1:n.7857+11C>G
XR_940370.1:n.7857+11C>G
XR_940371.1:n.7857+11C>G
XR_940372.1:n.7831+11C>G
XM_017005688.1:c.7734+11C>G	XP_016861177.1:n.7734+11C>G
XM_017005689.1:c.7794+11C>G	XP_016861178.1:n.7794+11C>G
XR_001740003.1:n.7830+11C>G
XR_001740004.1:n.7830+11C>G
XR_001740005.1:n.7830+11C>G
XR_001740006.1:n.7804+11C>G
NM_000094.4:c.7794+11C>G MANE Select	NP_000085.1:n.7794+11C>G