Canonical Allele Identifier: CA352641359
Gene: COL7A1 HGNC NCBI

Linked Data

dbSNP Id: rs1486424703
gnomAD v2: 3-48605184-G-A
gnomAD v4: 3-48567751-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48567751G>A , CM000665.2:g.48567751G>A GRCh38
NC_000003.11:g.48605184G>A , CM000665.1:g.48605184G>A GRCh37
NC_000003.10:g.48580188G>A NCBI36
NG_007065.1:g.32502C>T , LRG_286:g.32502C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000681320.1:c.7942C>T MANE Select ENSP00000506558.1:p.Pro2648Ser
ENST00000328333.12:c.7942C>T ENSP00000332371.8:p.Pro2648Ser
ENST00000459756.5:n.765C>T
ENST00000487017.5:n.4581C>T
NM_000094.3:c.7942C>T , LRG_286t1:c.7942C>T NP_000085.1:p.Pro2648Ser
XM_011533336.1:c.7969C>T XP_011531638.1:p.Pro2657Ser
XM_011533337.1:c.7942C>T XP_011531639.1:p.Pro2648Ser
XM_011533338.1:c.7909C>T XP_011531640.1:p.Pro2637Ser
XR_940369.1:n.8005C>T
XR_940370.1:n.8005C>T
XR_940371.1:n.8005C>T
XM_017005688.1:c.7882C>T XP_016861177.1:p.Pro2628Ser
XR_001740003.1:n.7978C>T
XR_001740004.1:n.7978C>T
XR_001740005.1:n.7978C>T
NM_000094.4:c.7942C>T MANE Select NP_000085.1:p.Pro2648Ser