Canonical Allele Identifier: CA157145520
Gene: SFRP4 HGNC NCBI
EPDR1 HGNC NCBI

Linked Data

dbSNP Id: rs760465419
gnomAD v2: 7-37946159-A-C
gnomAD v3: 7-37906557-A-C
gnomAD v4: 7-37906557-A-C
MyVariant Identifiers: chr7:g.37946159A>C (hg19) chr7:g.37906557A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37906557A>C , CM000669.2:g.37906557A>C GRCh38
NC_000007.13:g.37946159A>C , CM000669.1:g.37946159A>C GRCh37
NC_000007.12:g.37912684A>C NCBI36
NG_052980.1:g.15367T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000436072.7:c.*922T>G (SFRP4) MANE Select ENSP00000410715.2:n.*922T>G
ENST00000436072.6:c.*922T>G (SFRP4) ENSP00000410715.2:n.*922T>G
ENST00000476620.1:c.-37-42283A>C (EPDR1) ENSP00000425858.1:n.-37-42283A>C
NM_003014.3:c.*922T>G (SFRP4) NP_003005.2:n.*922T>G
NM_003014.4:c.*922T>G (SFRP4) MANE Select NP_003005.2:n.*922T>G
Search 100 bp 5'
Search 100 bp 3'