Canonical Allele Identifier: CA543045476

Gene: COL7A1

Linked Data

• dbSNP Id: rs1187547220
• gnomAD v2: 3-48605620-C-T
• gnomAD v4: 3-48568187-C-T
• MyVariant Identifiers: chr3:g.48605620C>T (hg19) ; chr3:g.48568187C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568187C>T , CM000665.2:g.48568187C>T	GRCh38
NC_000003.11:g.48605620C>T , CM000665.1:g.48605620C>T	GRCh37
NC_000003.10:g.48580624C>T	NCBI36
NG_007065.1:g.32066G>A , LRG_286:g.32066G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7795-17G>A MANE Select	ENSP00000506558.1:n.7795-17G>A
ENST00000328333.12:c.7795-17G>A	ENSP00000332371.8:n.7795-17G>A
ENST00000459756.5:n.618-17G>A
ENST00000467985.1:n.686G>A
ENST00000487017.5:n.4434-17G>A
NM_000094.3:c.7795-17G>A , LRG_286t1:c.7795-17G>A	NP_000085.1:n.7795-17G>A
XM_011533336.1:c.7822-17G>A	XP_011531638.1:n.7822-17G>A
XM_011533337.1:c.7795-17G>A	XP_011531639.1:n.7795-17G>A
XM_011533338.1:c.7762-17G>A	XP_011531640.1:n.7762-17G>A
XM_011533339.1:c.*10G>A	XP_011531641.1:n.*10G>A
XR_940369.1:n.7858-17G>A
XR_940370.1:n.7858-17G>A
XR_940371.1:n.7858-17G>A
XR_940372.1:n.7832-17G>A
XM_017005688.1:c.7735-17G>A	XP_016861177.1:n.7735-17G>A
XM_017005689.1:c.*10G>A	XP_016861178.1:n.*10G>A
XR_001740003.1:n.7831-17G>A
XR_001740004.1:n.7831-17G>A
XR_001740005.1:n.7831-17G>A
XR_001740006.1:n.7805-17G>A
NM_000094.4:c.7795-17G>A MANE Select	NP_000085.1:n.7795-17G>A