Canonical Allele Identifier: CA352646357

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48570309-C-G
• MyVariant Identifiers: chr3:g.48607742C>G (hg19) ; chr3:g.48570309C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570309C>G , CM000665.2:g.48570309C>G	GRCh38
NC_000003.11:g.48607742C>G , CM000665.1:g.48607742C>G	GRCh37
NC_000003.10:g.48582746C>G	NCBI36
NG_007065.1:g.29944G>C , LRG_286:g.29944G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7406G>C MANE Select	ENSP00000506558.1:p.Gly2469Ala
ENST00000328333.12:c.7406G>C	ENSP00000332371.8:p.Gly2469Ala
ENST00000422991.1:c.401G>C	ENSP00000391608.1:p.Gly134Ala
ENST00000459756.5:n.133G>C
ENST00000467985.1:n.156G>C
ENST00000487017.5:n.4045G>C
NM_000094.3:c.7406G>C , LRG_286t1:c.7406G>C	NP_000085.1:p.Gly2469Ala
XM_011533336.1:c.7433G>C	XP_011531638.1:p.Gly2478Ala
XM_011533337.1:c.7406G>C	XP_011531639.1:p.Gly2469Ala
XM_011533338.1:c.7408-131G>C	XP_011531640.1:n.7408-131G>C
XM_011533339.1:c.7433G>C	XP_011531641.1:p.Gly2478Ala
XM_011533340.1:c.7408-57G>C	XP_011531642.1:n.7408-57G>C
XM_011533341.1:c.7382-57G>C	XP_011531643.1:n.7382-57G>C
XM_011533342.1:c.7382-131G>C	XP_011531644.1:n.7382-131G>C
XR_940369.1:n.7469G>C
XR_940370.1:n.7469G>C
XR_940371.1:n.7469G>C
XR_940372.1:n.7443G>C
XM_017005688.1:c.7381-131G>C	XP_016861177.1:n.7381-131G>C
XM_017005689.1:c.7406G>C	XP_016861178.1:p.Gly2469Ala
XM_017005690.1:c.7381-57G>C	XP_016861179.1:n.7381-57G>C
XM_017005691.1:c.7355-57G>C	XP_016861180.1:n.7355-57G>C
XM_017005692.1:c.7355-131G>C	XP_016861181.1:n.7355-131G>C
XR_001740003.1:n.7442G>C
XR_001740004.1:n.7442G>C
XR_001740005.1:n.7442G>C
XR_001740006.1:n.7416G>C
NM_000094.4:c.7406G>C MANE Select	NP_000085.1:p.Gly2469Ala