Canonical Allele Identifier: CA352641899

Gene: COL7A1

Linked Data

• COSMIC: COSM6097856
• MyVariant Identifiers: chr3:g.48605555C>G (hg19) ; chr3:g.48568122C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568122C>G , CM000665.2:g.48568122C>G	GRCh38
NC_000003.11:g.48605555C>G , CM000665.1:g.48605555C>G	GRCh37
NC_000003.10:g.48580559C>G	NCBI36
NG_007065.1:g.32131G>C , LRG_286:g.32131G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7843G>C MANE Select	ENSP00000506558.1:p.Asp2615His
ENST00000328333.12:c.7843G>C	ENSP00000332371.8:p.Asp2615His
ENST00000459756.5:n.666G>C
ENST00000487017.5:n.4482G>C
NM_000094.3:c.7843G>C , LRG_286t1:c.7843G>C	NP_000085.1:p.Asp2615His
XM_011533336.1:c.7870G>C	XP_011531638.1:p.Asp2624His
XM_011533337.1:c.7843G>C	XP_011531639.1:p.Asp2615His
XM_011533338.1:c.7810G>C	XP_011531640.1:p.Asp2604His
XR_940369.1:n.7906G>C
XR_940370.1:n.7906G>C
XR_940371.1:n.7906G>C
XM_017005688.1:c.7783G>C	XP_016861177.1:p.Asp2595His
XR_001740003.1:n.7879G>C
XR_001740004.1:n.7879G>C
XR_001740005.1:n.7879G>C
NM_000094.4:c.7843G>C MANE Select	NP_000085.1:p.Asp2615His