Canonical Allele Identifier: CA15737216
Gene: SPRYD4 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.56469986G>C
GRCh37 chr12:g.56863770G>C
gnomAD v2:
12:56863770 G / C
gnomAD v3:
12:56469986 G / C
gnomAD v4:
chr12-56469986-G-C
Joint Max Group AF 0.20004817 (AMR)
Genomes Max Group AF 0.19974662 (AMR)
Exomes Max Group AF 0.19153763 (AMR)
dbSNP:
2657880
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56469986G>C , CM000674.2:g.56469986G>C GRCh38
NC_000012.11:g.56863770G>C , CM000674.1:g.56863770G>C GRCh37
NC_000012.10:g.55150037G>C NCBI36
NG_021397.2:g.4181C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000338146.7:c.*409G>C MANE Select ENSP00000338034.5:n.*409G>C
ENST00000648304.1:c.183-16231C>G ENSP00000497190.1:n.183-16231C>G
ENST00000338146.6:c.*409G>C ENSP00000338034.5:n.*409G>C
ENST00000629545.1:c.179G>C ENSP00000487087.1:p.Trp60Ser
NM_207344.3:c.*409G>C NP_997227.1:n.*409G>C
NM_207344.4:c.*409G>C MANE Select NP_997227.1:n.*409G>C
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