Canonical Allele Identifier: CA2377927

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48565098C>G , CM000665.2:g.48565098C>G	GRCh38
NC_000003.11:g.48602531C>G , CM000665.1:g.48602531C>G	GRCh37
NC_000003.10:g.48577535C>G	NCBI36
NG_007065.1:g.35155G>C , LRG_286:g.35155G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000094.4:c.8620+11G>C MANE Select	NP_000085.1:n.8620+11G>C
ENST00000681320.1:c.8620+11G>C MANE Select	ENSP00000506558.1:n.8620+11G>C
NM_000094.3:c.8620+11G>C , LRG_286t1:c.8620+11G>C	NP_000085.1:n.8620+11G>C
ENST00000328333.12:c.8620+11G>C	ENSP00000332371.8:n.8620+11G>C
ENST00000466591.1:n.231+11G>C
ENST00000487017.5:n.5259+11G>C
XM_011533336.1:c.8647+11G>C	XP_011531638.1:n.8647+11G>C
XM_011533337.1:c.8620+11G>C	XP_011531639.1:n.8620+11G>C
XM_011533338.1:c.8587+11G>C	XP_011531640.1:n.8587+11G>C
XM_017005688.1:c.8560+11G>C	XP_016861177.1:n.8560+11G>C
XR_001740003.1:n.8729+11G>C
XR_001740004.1:n.8693+11G>C
XR_001740005.1:n.8690+11G>C
XR_940369.1:n.8756+11G>C
XR_940370.1:n.8720+11G>C
XR_940371.1:n.8717+11G>C