Canonical Allele Identifier: CA2665614544

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48564992G>C , CM000665.2:g.48564992G>C	GRCh38
NC_000003.11:g.48602425G>C , CM000665.1:g.48602425G>C	GRCh37
NC_000003.10:g.48577429G>C	NCBI36
NG_007065.1:g.35261C>G , LRG_286:g.35261C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8621-12C>G MANE Select	ENSP00000506558.1:n.8621-12C>G
ENST00000328333.12:c.8621-12C>G	ENSP00000332371.8:n.8621-12C>G
ENST00000465238.5:n.28C>G
ENST00000466591.1:n.232-12C>G
ENST00000470076.1:n.1C>G
ENST00000487017.5:n.5260-12C>G
NM_000094.3:c.8621-12C>G , LRG_286t1:c.8621-12C>G	NP_000085.1:n.8621-12C>G
XM_011533336.1:c.8648-12C>G	XP_011531638.1:n.8648-12C>G
XM_011533337.1:c.8621-12C>G	XP_011531639.1:n.8621-12C>G
XM_011533338.1:c.8588-12C>G	XP_011531640.1:n.8588-12C>G
XR_940369.1:n.8757-12C>G
XR_940370.1:n.8721-12C>G
XR_940371.1:n.8718-12C>G
XM_017005688.1:c.8561-12C>G	XP_016861177.1:n.8561-12C>G
XR_001740003.1:n.8730-12C>G
XR_001740004.1:n.8694-12C>G
XR_001740005.1:n.8691-12C>G
NM_000094.4:c.8621-12C>G MANE Select	NP_000085.1:n.8621-12C>G