Canonical Allele Identifier: CA352645679

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48570147-G-A
• MyVariant Identifiers: chr3:g.48607580G>A (hg19) ; chr3:g.48570147G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570147G>A , CM000665.2:g.48570147G>A	GRCh38
NC_000003.11:g.48607580G>A , CM000665.1:g.48607580G>A	GRCh37
NC_000003.10:g.48582584G>A	NCBI36
NG_007065.1:g.30106C>T , LRG_286:g.30106C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7472C>T MANE Select	ENSP00000506558.1:p.Pro2491Leu
ENST00000328333.12:c.7472C>T	ENSP00000332371.8:p.Pro2491Leu
ENST00000422991.1:c.467C>T	ENSP00000391608.1:p.Pro156Leu
ENST00000459756.5:n.295C>T
ENST00000467985.1:n.318C>T
ENST00000487017.5:n.4111C>T
NM_000094.3:c.7472C>T , LRG_286t1:c.7472C>T	NP_000085.1:p.Pro2491Leu
XM_011533336.1:c.7499C>T	XP_011531638.1:p.Pro2500Leu
XM_011533337.1:c.7472C>T	XP_011531639.1:p.Pro2491Leu
XM_011533338.1:c.7439C>T	XP_011531640.1:p.Pro2480Leu
XM_011533339.1:c.7499C>T	XP_011531641.1:p.Pro2500Leu
XM_011533342.1:c.*27C>T	XP_011531644.1:n.*27C>T
XR_940369.1:n.7535C>T
XR_940370.1:n.7535C>T
XR_940371.1:n.7535C>T
XR_940372.1:n.7509C>T
XM_017005688.1:c.7412C>T	XP_016861177.1:p.Pro2471Leu
XM_017005689.1:c.7472C>T	XP_016861178.1:p.Pro2491Leu
XM_017005692.1:c.*27C>T	XP_016861181.1:n.*27C>T
XR_001740003.1:n.7508C>T
XR_001740004.1:n.7508C>T
XR_001740005.1:n.7508C>T
XR_001740006.1:n.7482C>T
NM_000094.4:c.7472C>T MANE Select	NP_000085.1:p.Pro2491Leu