Canonical Allele Identifier: CA2665618696

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48567667-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567667C>G , CM000665.2:g.48567667C>G	GRCh38
NC_000003.11:g.48605100C>G , CM000665.1:g.48605100C>G	GRCh37
NC_000003.10:g.48580104C>G	NCBI36
NG_007065.1:g.32586G>C , LRG_286:g.32586G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7984-31G>C MANE Select	ENSP00000506558.1:n.7984-31G>C
ENST00000328333.12:c.7984-31G>C	ENSP00000332371.8:n.7984-31G>C
ENST00000487017.5:n.4623-31G>C
NM_000094.3:c.7984-31G>C , LRG_286t1:c.7984-31G>C	NP_000085.1:n.7984-31G>C
XM_011533336.1:c.8011-31G>C	XP_011531638.1:n.8011-31G>C
XM_011533337.1:c.7984-31G>C	XP_011531639.1:n.7984-31G>C
XM_011533338.1:c.7951-31G>C	XP_011531640.1:n.7951-31G>C
XR_940369.1:n.8047-31G>C
XR_940370.1:n.8047-31G>C
XR_940371.1:n.8047-31G>C
XM_017005688.1:c.7924-31G>C	XP_016861177.1:n.7924-31G>C
XR_001740003.1:n.8020-31G>C
XR_001740004.1:n.8020-31G>C
XR_001740005.1:n.8020-31G>C
NM_000094.4:c.7984-31G>C MANE Select	NP_000085.1:n.7984-31G>C