Canonical Allele Identifier: CA352642164

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48568504-C-A
• MyVariant Identifiers: chr3:g.48605937C>A (hg19) ; chr3:g.48568504C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568504C>A , CM000665.2:g.48568504C>A	GRCh38
NC_000003.11:g.48605937C>A , CM000665.1:g.48605937C>A	GRCh37
NC_000003.10:g.48580941C>A	NCBI36
NG_007065.1:g.31749G>T , LRG_286:g.31749G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7789G>T MANE Select	ENSP00000506558.1:p.Asp2597Tyr
ENST00000328333.12:c.7789G>T	ENSP00000332371.8:p.Asp2597Tyr
ENST00000459756.5:n.612G>T
ENST00000467985.1:n.635G>T
ENST00000487017.5:n.4428G>T
NM_000094.3:c.7789G>T , LRG_286t1:c.7789G>T	NP_000085.1:p.Asp2597Tyr
XM_011533336.1:c.7816G>T	XP_011531638.1:p.Asp2606Tyr
XM_011533337.1:c.7789G>T	XP_011531639.1:p.Asp2597Tyr
XM_011533338.1:c.7756G>T	XP_011531640.1:p.Asp2586Tyr
XM_011533339.1:c.7816G>T	XP_011531641.1:p.Asp2606Tyr
XR_940369.1:n.7852G>T
XR_940370.1:n.7852G>T
XR_940371.1:n.7852G>T
XR_940372.1:n.7826G>T
XM_017005688.1:c.7729G>T	XP_016861177.1:p.Asp2577Tyr
XM_017005689.1:c.7789G>T	XP_016861178.1:p.Asp2597Tyr
XR_001740003.1:n.7825G>T
XR_001740004.1:n.7825G>T
XR_001740005.1:n.7825G>T
XR_001740006.1:n.7799G>T
NM_000094.4:c.7789G>T MANE Select	NP_000085.1:p.Asp2597Tyr