Canonical Allele Identifier: CA14677889
Gene: SCAF1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.49644795G>A
GRCh37 chr19:g.50148052G>A
gnomAD v2:
19:50148052 G / A
gnomAD v3:
19:49644795 G / A
gnomAD v4:
chr19-49644795-G-A
Joint Max Group AF 0.71939683 (AFR)
Genomes Max Group AF 0.72010856 (AFR)
Exomes Max Group AF 0.69997478 (AFR)
dbSNP:
12104272
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49644795G>A , CM000681.2:g.49644795G>A GRCh38
NC_000019.9:g.50148052G>A , CM000681.1:g.50148052G>A GRCh37
NC_000019.8:g.54839864G>A NCBI36
NG_042222.1:g.349C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360565.8:c.-6-226G>A MANE Select ENSP00000353769.2:n.-6-226G>A
ENST00000360565.7:c.-6-226G>A ENSP00000353769.2:n.-6-226G>A
ENST00000598359.5:c.-6-226G>A ENSP00000473210.1:n.-6-226G>A
NM_021228.2:c.-6-226G>A NP_067051.2:n.-6-226G>A
XM_005259122.3:c.-6-226G>A XP_005259179.1:n.-6-226G>A
XM_011527194.1:c.4-226G>A XP_011525496.1:n.4-226G>A
XM_005259122.5:c.-6-226G>A XP_005259179.1:n.-6-226G>A
XM_011527194.3:c.4-226G>A XP_011525496.1:n.4-226G>A
NM_021228.3:c.-6-226G>A MANE Select NP_067051.2:n.-6-226G>A
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