Canonical Allele Identifier: CA2379995

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 255110
• ClinVar RCV Id: RCV000245420 ; RCV000342266 ; RCV001523596
• dbSNP Id: rs74390291
• ExAC: 3:48620492 A / G
• gnomAD v2: 3-48620492-A-G
• gnomAD v3: 3-48583059-A-G
• gnomAD v4: 3-48583059-A-G
• MyVariant Identifiers: chr3:g.48620492A>G (hg19) ; chr3:g.48583059A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48583059A>G , CM000665.2:g.48583059A>G	GRCh38
NC_000003.11:g.48620492A>G , CM000665.1:g.48620492A>G	GRCh37
NC_000003.10:g.48595496A>G	NCBI36
NG_007065.1:g.17194T>C , LRG_286:g.17194T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.4483-11T>C MANE Select	ENSP00000506558.1:n.4483-11T>C
ENST00000328333.12:c.4483-11T>C	ENSP00000332371.8:n.4483-11T>C
ENST00000487017.5:n.400-11T>C
NM_000094.3:c.4483-11T>C , LRG_286t1:c.4483-11T>C	NP_000085.1:n.4483-11T>C
XM_011533336.1:c.4510-11T>C	XP_011531638.1:n.4510-11T>C
XM_011533337.1:c.4483-11T>C	XP_011531639.1:n.4483-11T>C
XM_011533338.1:c.4510-11T>C	XP_011531640.1:n.4510-11T>C
XM_011533339.1:c.4510-11T>C	XP_011531641.1:n.4510-11T>C
XM_011533340.1:c.4510-11T>C	XP_011531642.1:n.4510-11T>C
XM_011533341.1:c.4510-11T>C	XP_011531643.1:n.4510-11T>C
XM_011533342.1:c.4510-11T>C	XP_011531644.1:n.4510-11T>C
XR_940369.1:n.4546-11T>C
XR_940370.1:n.4546-11T>C
XR_940371.1:n.4546-11T>C
XR_940372.1:n.4546-11T>C
XR_940373.1:n.4546-11T>C
XR_940374.1:n.4546-11T>C
XR_940375.1:n.4546-11T>C
XM_017005688.1:c.4483-11T>C	XP_016861177.1:n.4483-11T>C
XM_017005689.1:c.4483-11T>C	XP_016861178.1:n.4483-11T>C
XM_017005690.1:c.4483-11T>C	XP_016861179.1:n.4483-11T>C
XM_017005691.1:c.4483-11T>C	XP_016861180.1:n.4483-11T>C
XM_017005692.1:c.4483-11T>C	XP_016861181.1:n.4483-11T>C
XR_001740003.1:n.4519-11T>C
XR_001740004.1:n.4519-11T>C
XR_001740005.1:n.4519-11T>C
XR_001740006.1:n.4519-11T>C
XR_001740007.1:n.4519-11T>C
XR_001740008.1:n.4519-11T>C
XR_001740009.1:n.4519-11T>C
NM_000094.4:c.4483-11T>C MANE Select	NP_000085.1:n.4483-11T>C