Canonical Allele Identifier: CA2665621792

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48570187-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570187T>C , CM000665.2:g.48570187T>C	GRCh38
NC_000003.11:g.48607620T>C , CM000665.1:g.48607620T>C	GRCh37
NC_000003.10:g.48582624T>C	NCBI36
NG_007065.1:g.30066A>G , LRG_286:g.30066A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7441-9A>G MANE Select	ENSP00000506558.1:n.7441-9A>G
ENST00000328333.12:c.7441-9A>G	ENSP00000332371.8:n.7441-9A>G
ENST00000422991.1:c.436-9A>G	ENSP00000391608.1:n.436-9A>G
ENST00000459756.5:n.255A>G
ENST00000467985.1:n.278A>G
ENST00000487017.5:n.4080-9A>G
NM_000094.3:c.7441-9A>G , LRG_286t1:c.7441-9A>G	NP_000085.1:n.7441-9A>G
XM_011533336.1:c.7468-9A>G	XP_011531638.1:n.7468-9A>G
XM_011533337.1:c.7441-9A>G	XP_011531639.1:n.7441-9A>G
XM_011533338.1:c.7408-9A>G	XP_011531640.1:n.7408-9A>G
XM_011533339.1:c.7468-9A>G	XP_011531641.1:n.7468-9A>G
XM_011533340.1:c.*33A>G	XP_011531642.1:n.*33A>G
XM_011533341.1:c.*19A>G	XP_011531643.1:n.*19A>G
XM_011533342.1:c.7382-9A>G	XP_011531644.1:n.7382-9A>G
XR_940369.1:n.7504-9A>G
XR_940370.1:n.7504-9A>G
XR_940371.1:n.7504-9A>G
XR_940372.1:n.7478-9A>G
XM_017005688.1:c.7381-9A>G	XP_016861177.1:n.7381-9A>G
XM_017005689.1:c.7441-9A>G	XP_016861178.1:n.7441-9A>G
XM_017005690.1:c.*33A>G	XP_016861179.1:n.*33A>G
XM_017005691.1:c.*19A>G	XP_016861180.1:n.*19A>G
XM_017005692.1:c.7355-9A>G	XP_016861181.1:n.7355-9A>G
XR_001740003.1:n.7477-9A>G
XR_001740004.1:n.7477-9A>G
XR_001740005.1:n.7477-9A>G
XR_001740006.1:n.7451-9A>G
NM_000094.4:c.7441-9A>G MANE Select	NP_000085.1:n.7441-9A>G