Canonical Allele Identifier: CA8600597
Gene: SLC4A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.44260432G>T
GRCh37 chr17:g.42337800G>T
Revel Score:
ENST00000262418 (MANE Select) 0.357
gnomAD v2:
17:42337800 G / T
gnomAD v3:
17:44260432 G / T
gnomAD v4:
chr17-44260432-G-T
Joint Max Group AF 0.00066388 (AMR)
Genomes Max Group AF 0.00030639 (AMR)
Exomes Max Group AF 0.00071496 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44260432G>T , CM000679.2:g.44260432G>T GRCh38
NC_000017.10:g.42337800G>T , CM000679.1:g.42337800G>T GRCh37
NC_000017.9:g.39693326G>T NCBI36
NG_007498.1:g.12703C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.457C>A MANE Select ENSP00000262418.6:p.Leu153Met
ENST00000262418.10:c.457C>A ENSP00000262418.6:p.Leu153Met
ENST00000399246.3:c.457C>A ENSP00000382190.3:p.Leu153Met
ENST00000471005.5:n.391C>A
ENST00000497360.5:n.596C>A
NM_000342.3:c.457C>A NP_000333.1:p.Leu153Met
XM_005257593.3:c.262C>A XP_005257650.1:p.Leu88Met
XM_011525129.1:c.457C>A XP_011523431.1:p.Leu153Met
XM_011525130.1:c.457C>A XP_011523432.1:p.Leu153Met
XM_011525131.1:c.457C>A XP_011523433.1:p.Leu153Met
XM_005257593.5:c.262C>A XP_005257650.1:p.Leu88Met
XM_011525129.2:c.457C>A XP_011523431.1:p.Leu153Met
NM_000342.4:c.457C>A MANE Select NP_000333.1:p.Leu153Met
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