Canonical Allele Identifier: CA352641246

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48605154T>C (hg19) ; chr3:g.48567721T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567721T>C , CM000665.2:g.48567721T>C	GRCh38
NC_000003.11:g.48605154T>C , CM000665.1:g.48605154T>C	GRCh37
NC_000003.10:g.48580158T>C	NCBI36
NG_007065.1:g.32532A>G , LRG_286:g.32532A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7972A>G MANE Select	ENSP00000506558.1:p.Lys2658Glu
ENST00000328333.12:c.7972A>G	ENSP00000332371.8:p.Lys2658Glu
ENST00000459756.5:n.795A>G
ENST00000487017.5:n.4611A>G
NM_000094.3:c.7972A>G , LRG_286t1:c.7972A>G	NP_000085.1:p.Lys2658Glu
XM_011533336.1:c.7999A>G	XP_011531638.1:p.Lys2667Glu
XM_011533337.1:c.7972A>G	XP_011531639.1:p.Lys2658Glu
XM_011533338.1:c.7939A>G	XP_011531640.1:p.Lys2647Glu
XR_940369.1:n.8035A>G
XR_940370.1:n.8035A>G
XR_940371.1:n.8035A>G
XM_017005688.1:c.7912A>G	XP_016861177.1:p.Lys2638Glu
XR_001740003.1:n.8008A>G
XR_001740004.1:n.8008A>G
XR_001740005.1:n.8008A>G
NM_000094.4:c.7972A>G MANE Select	NP_000085.1:p.Lys2658Glu