Canonical Allele Identifier: CA2597013461

Gene: COL7A1

Linked Data

• dbSNP Id: rs2107636930
• gnomAD v3: 3-48568014-A-G
• gnomAD v4: 3-48568014-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568014A>G , CM000665.2:g.48568014A>G	GRCh38
NC_000003.11:g.48605447A>G , CM000665.1:g.48605447A>G	GRCh37
NC_000003.10:g.48580451A>G	NCBI36
NG_007065.1:g.32239T>C , LRG_286:g.32239T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7875+76T>C MANE Select	ENSP00000506558.1:n.7875+76T>C
ENST00000328333.12:c.7875+76T>C	ENSP00000332371.8:n.7875+76T>C
ENST00000459756.5:n.698+76T>C
ENST00000487017.5:n.4514+76T>C
NM_000094.3:c.7875+76T>C , LRG_286t1:c.7875+76T>C	NP_000085.1:n.7875+76T>C
XM_011533336.1:c.7902+76T>C	XP_011531638.1:n.7902+76T>C
XM_011533337.1:c.7875+76T>C	XP_011531639.1:n.7875+76T>C
XM_011533338.1:c.7842+76T>C	XP_011531640.1:n.7842+76T>C
XR_940369.1:n.7938+76T>C
XR_940370.1:n.7938+76T>C
XR_940371.1:n.7938+76T>C
XM_017005688.1:c.7815+76T>C	XP_016861177.1:n.7815+76T>C
XR_001740003.1:n.7911+76T>C
XR_001740004.1:n.7911+76T>C
XR_001740005.1:n.7911+76T>C
NM_000094.4:c.7875+76T>C MANE Select	NP_000085.1:n.7875+76T>C