Canonical Allele Identifier: CA1047677037

Gene: COL7A1

Linked Data

• dbSNP Id: rs2043811524
• gnomAD v3: 3-48570057-C-G
• gnomAD v4: 3-48570057-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570057C>G , CM000665.2:g.48570057C>G	GRCh38
NC_000003.11:g.48607490C>G , CM000665.1:g.48607490C>G	GRCh37
NC_000003.10:g.48582494C>G	NCBI36
NG_007065.1:g.30196G>C , LRG_286:g.30196G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7485+77G>C MANE Select	ENSP00000506558.1:n.7485+77G>C
ENST00000328333.12:c.7485+77G>C	ENSP00000332371.8:n.7485+77G>C
ENST00000422991.1:c.480+77G>C	ENSP00000391608.1:n.480+77G>C
ENST00000459756.5:n.308+77G>C
ENST00000467985.1:n.331+77G>C
ENST00000487017.5:n.4124+77G>C
NM_000094.3:c.7485+77G>C , LRG_286t1:c.7485+77G>C	NP_000085.1:n.7485+77G>C
XM_011533336.1:c.7512+77G>C	XP_011531638.1:n.7512+77G>C
XM_011533337.1:c.7485+77G>C	XP_011531639.1:n.7485+77G>C
XM_011533338.1:c.7452+77G>C	XP_011531640.1:n.7452+77G>C
XM_011533339.1:c.7512+77G>C	XP_011531641.1:n.7512+77G>C
XM_011533342.1:c.*40+77G>C	XP_011531644.1:n.*40+77G>C
XR_940369.1:n.7548+77G>C
XR_940370.1:n.7548+77G>C
XR_940371.1:n.7548+77G>C
XR_940372.1:n.7522+77G>C
XM_017005688.1:c.7425+77G>C	XP_016861177.1:n.7425+77G>C
XM_017005689.1:c.7485+77G>C	XP_016861178.1:n.7485+77G>C
XM_017005692.1:c.*40+77G>C	XP_016861181.1:n.*40+77G>C
XR_001740003.1:n.7521+77G>C
XR_001740004.1:n.7521+77G>C
XR_001740005.1:n.7521+77G>C
XR_001740006.1:n.7495+77G>C
NM_000094.4:c.7485+77G>C MANE Select	NP_000085.1:n.7485+77G>C