Canonical Allele Identifier: CA3725473
Gene: SLC44A4 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31869289C>T
GRCh37 chr6:g.31837066C>T
gnomAD v2:
6:31837066 C / T
gnomAD v3:
6:31869289 C / T
gnomAD v4:
chr6-31869289-C-T
Joint Max Group AF 0.08513033 (AFR)
Genomes Max Group AF 0.08578381 (AFR)
Exomes Max Group AF 0.08260914 (AFR)
ClinVar RCV:
RCV001656750
ClinVar Variation:
1249229
dbSNP:
11966200
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31869289C>T , CM000668.2:g.31869289C>T GRCh38
NC_000006.11:g.31837066C>T , CM000668.1:g.31837066C>T GRCh37
NC_000006.10:g.31945045C>T NCBI36
NG_023058.1:g.14758G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000229729.11:c.1131-32G>A MANE Select ENSP00000229729.6:n.1131-32G>A
ENST00000229729.10:c.1131-32G>A ENSP00000229729.6:n.1131-32G>A
ENST00000375562.8:c.1005-32G>A ENSP00000364712.4:n.1005-32G>A
ENST00000414427.1:c.782-32G>A
ENST00000479777.1:n.485-32G>A
ENST00000544672.5:c.903-32G>A ENSP00000444109.1:n.903-32G>A
NM_001178044.1:c.1005-32G>A NP_001171515.1:n.1005-32G>A
NM_001178045.1:c.903-32G>A NP_001171516.1:n.903-32G>A
NM_025257.2:c.1131-32G>A NP_079533.2:n.1131-32G>A
NM_025257.3:c.1131-32G>A MANE Select NP_079533.2:n.1131-32G>A
NM_001178044.2:c.1005-32G>A NP_001171515.1:n.1005-32G>A
NM_001178045.2:c.903-32G>A NP_001171516.1:n.903-32G>A
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