Canonical Allele Identifier: CA4223190

Gene: EPDR1 SFRP4

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37921233G>C , CM000669.2:g.37921233G>C	GRCh38
NC_000007.13:g.37960835G>C , CM000669.1:g.37960835G>C	GRCh37
NC_000007.12:g.37927360G>C	NCBI36
NG_052980.1:g.691C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199448.9:c.269+25G>C (EPDR1) MANE Select	ENSP00000199448.4:n.269+25G>C
ENST00000199448.8:c.269+25G>C (EPDR1)	ENSP00000199448.4:n.269+25G>C
ENST00000423717.1:c.269+25G>C (EPDR1)	ENSP00000409211.1:n.269+25G>C
ENST00000447200.2:c.43+5447C>G (SFRP4)	ENSP00000402262.2:n.43+5447C>G
ENST00000476620.1:c.-37-27607G>C (EPDR1)	ENSP00000425858.1:n.-37-27607G>C
NM_001242946.1:c.269+25G>C (EPDR1)	NP_001229875.2:n.269+25G>C
NM_017549.4:c.269+25G>C (EPDR1)	NP_060019.2:n.269+25G>C
NM_017549.5:c.269+25G>C (EPDR1) MANE Select	NP_060019.2:n.269+25G>C
NM_001242946.2:c.269+25G>C (EPDR1)	NP_001229875.2:n.269+25G>C