Canonical Allele Identifier: CA1363076533

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568066A= , CM000665.2:g.48568066A=	GRCh38
NC_000003.11:g.48605499A= , CM000665.1:g.48605499A=	GRCh37
NC_000003.10:g.48580503A=	NCBI36
NG_007065.1:g.32187T= , LRG_286:g.32187T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7875+24T= MANE Select	ENSP00000506558.1:n.7875+24T=
ENST00000328333.12:c.7875+24T=	ENSP00000332371.8:n.7875+24T=
ENST00000459756.5:n.698+24T=
ENST00000487017.5:n.4514+24T=
NM_000094.3:c.7875+24T= , LRG_286t1:c.7875+24T=	NP_000085.1:n.7875+24T=
XM_011533336.1:c.7902+24T=	XP_011531638.1:n.7902+24T=
XM_011533337.1:c.7875+24T=	XP_011531639.1:n.7875+24T=
XM_011533338.1:c.7842+24T=	XP_011531640.1:n.7842+24T=
XR_940369.1:n.7938+24T=
XR_940370.1:n.7938+24T=
XR_940371.1:n.7938+24T=
XM_017005688.1:c.7815+24T=	XP_016861177.1:n.7815+24T=
XR_001740003.1:n.7911+24T=
XR_001740004.1:n.7911+24T=
XR_001740005.1:n.7911+24T=
NM_000094.4:c.7875+24T= MANE Select	NP_000085.1:n.7875+24T=