Canonical Allele Identifier: CA8600651
Gene: SLC4A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.44260698G>A
GRCh37 chr17:g.42338066G>A
Revel Score:
ENST00000262418 (MANE Select) 0.341
gnomAD v2:
17:42338066 G / A
gnomAD v3:
17:44260698 G / A
gnomAD v4:
chr17-44260698-G-A
Joint Max Group AF 0.00187358 (SAS)
Genomes Max Group AF 0.00127526 (SAS)
Exomes Max Group AF 0.00185883 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44260698G>A , CM000679.2:g.44260698G>A GRCh38
NC_000017.10:g.42338066G>A , CM000679.1:g.42338066G>A GRCh37
NC_000017.9:g.39693592G>A NCBI36
NG_007498.1:g.12437C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.286C>T MANE Select ENSP00000262418.6:p.Arg96Cys
ENST00000262418.10:c.286C>T ENSP00000262418.6:p.Arg96Cys
ENST00000399246.3:c.286C>T ENSP00000382190.3:p.Arg96Cys
ENST00000471005.5:n.220C>T
ENST00000497360.5:n.425C>T
NM_000342.3:c.286C>T NP_000333.1:p.Arg96Cys
XM_005257593.3:c.91C>T XP_005257650.1:p.Arg31Cys
XM_011525129.1:c.286C>T XP_011523431.1:p.Arg96Cys
XM_011525130.1:c.286C>T XP_011523432.1:p.Arg96Cys
XM_011525131.1:c.286C>T XP_011523433.1:p.Arg96Cys
XM_005257593.5:c.91C>T XP_005257650.1:p.Arg31Cys
XM_011525129.2:c.286C>T XP_011523431.1:p.Arg96Cys
NM_000342.4:c.286C>T MANE Select NP_000333.1:p.Arg96Cys
Search 100 bp 5'
Search 100 bp 3'