Canonical Allele Identifier: CA433533982

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48607753T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570320T>G , CM000665.2:g.48570320T>G	GRCh38
NC_000003.11:g.48607753T>G , CM000665.1:g.48607753T>G	GRCh37
NC_000003.10:g.48582757T>G	NCBI36
NG_007065.1:g.29933A>C , LRG_286:g.29933A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7395A>C MANE Select	ENSP00000506558.1:p.Val2465=
ENST00000328333.12:c.7395A>C	ENSP00000332371.8:p.Val2465=
ENST00000422991.1:c.390A>C	ENSP00000391608.1:p.Val130=
ENST00000459756.5:n.122A>C
ENST00000467985.1:n.145A>C
ENST00000487017.5:n.4034A>C
NM_000094.3:c.7395A>C , LRG_286t1:c.7395A>C	NP_000085.1:p.Val2465=
XM_011533336.1:c.7422A>C	XP_011531638.1:p.Val2474=
XM_011533337.1:c.7395A>C	XP_011531639.1:p.Val2465=
XM_011533338.1:c.7408-142A>C	XP_011531640.1:n.7408-142A>C
XM_011533339.1:c.7422A>C	XP_011531641.1:p.Val2474=
XM_011533340.1:c.7408-68A>C	XP_011531642.1:n.7408-68A>C
XM_011533341.1:c.7382-68A>C	XP_011531643.1:n.7382-68A>C
XM_011533342.1:c.7382-142A>C	XP_011531644.1:n.7382-142A>C
XR_940369.1:n.7458A>C
XR_940370.1:n.7458A>C
XR_940371.1:n.7458A>C
XR_940372.1:n.7432A>C
XM_017005688.1:c.7381-142A>C	XP_016861177.1:n.7381-142A>C
XM_017005689.1:c.7395A>C	XP_016861178.1:p.Val2465=
XM_017005690.1:c.7381-68A>C	XP_016861179.1:n.7381-68A>C
XM_017005691.1:c.7355-68A>C	XP_016861180.1:n.7355-68A>C
XM_017005692.1:c.7355-142A>C	XP_016861181.1:n.7355-142A>C
XR_001740003.1:n.7431A>C
XR_001740004.1:n.7431A>C
XR_001740005.1:n.7431A>C
XR_001740006.1:n.7405A>C
NM_000094.4:c.7395A>C MANE Select	NP_000085.1:p.Val2465=