Canonical Allele Identifier: CA2577587646

Gene: COL7A1

Linked Data

• dbSNP Id: rs1409243455

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567940G>C , CM000665.2:g.48567940G>C	GRCh38
NC_000003.11:g.48605373G>C , CM000665.1:g.48605373G>C	GRCh37
NC_000003.10:g.48580377G>C	NCBI36
NG_007065.1:g.32313C>G , LRG_286:g.32313C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7876-49C>G MANE Select	ENSP00000506558.1:n.7876-49C>G
ENST00000328333.12:c.7876-49C>G	ENSP00000332371.8:n.7876-49C>G
ENST00000459756.5:n.699-49C>G
ENST00000487017.5:n.4515-49C>G
NM_000094.3:c.7876-49C>G , LRG_286t1:c.7876-49C>G	NP_000085.1:n.7876-49C>G
XM_011533336.1:c.7903-49C>G	XP_011531638.1:n.7903-49C>G
XM_011533337.1:c.7876-49C>G	XP_011531639.1:n.7876-49C>G
XM_011533338.1:c.7843-49C>G	XP_011531640.1:n.7843-49C>G
XR_940369.1:n.7939-49C>G
XR_940370.1:n.7939-49C>G
XR_940371.1:n.7939-49C>G
XM_017005688.1:c.7816-49C>G	XP_016861177.1:n.7816-49C>G
XR_001740003.1:n.7912-49C>G
XR_001740004.1:n.7912-49C>G
XR_001740005.1:n.7912-49C>G
NM_000094.4:c.7876-49C>G MANE Select	NP_000085.1:n.7876-49C>G