Canonical Allele Identifier: CA454692580

Linked Data

MyVariant Identifiers: chr7:g.37988646A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37949044A>G , CM000669.2:g.37949044A>G GRCh38
NC_000007.13:g.37988646A>G , CM000669.1:g.37988646A>G GRCh37
NC_000007.12:g.37955171A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000199448.9:c.474A>G (EPDR1) MANE Select ENSP00000199448.4:p.Arg158=
ENST00000199448.8:c.474A>G (EPDR1) ENSP00000199448.4:p.Arg158=
ENST00000423717.1:c.270-1156A>G (EPDR1) ENSP00000409211.1:n.270-1156A>G
ENST00000425345.1:c.291A>G (EPDR1) ENSP00000413359.1:p.Arg97=
ENST00000447200.2:c.-52-22270T>C (SFRP4) ENSP00000402262.2:n.-52-22270T>C
ENST00000476620.1:c.168A>G (EPDR1) ENSP00000425858.1:p.Arg56=
NM_001242946.1:c.270-1156A>G (EPDR1) NP_001229875.2:n.270-1156A>G
NM_001242948.1:c.291A>G (EPDR1) NP_001229877.1:p.Arg97=
NM_017549.4:c.474A>G (EPDR1) NP_060019.2:p.Arg158=
NM_017549.5:c.474A>G (EPDR1) MANE Select NP_060019.2:p.Arg158=
NM_001242946.2:c.270-1156A>G (EPDR1) NP_001229875.2:n.270-1156A>G
NM_001242948.2:c.291A>G (EPDR1) NP_001229877.1:p.Arg97=