Canonical Allele Identifier: CA127392
Gene: SLC4A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.44251253G>A
GRCh37 chr17:g.42328621G>A
Revel Score:
ENST00000262418 (MANE Select) 0.210
gnomAD v2:
17:42328621 G / A
gnomAD v3:
17:44251253 G / A
gnomAD v4:
chr17-44251253-G-A
Joint Max Group AF 0.03792525 (EAS)
Genomes Max Group AF 0.02120627 (EAS)
Exomes Max Group AF 0.03971975 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44251253G>A , CM000679.2:g.44251253G>A GRCh38
NC_000017.10:g.42328621G>A , CM000679.1:g.42328621G>A GRCh37
NC_000017.9:g.39684147G>A NCBI36
NG_007498.1:g.21882C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.2561C>T MANE Select ENSP00000262418.6:p.Pro854Leu
ENST00000262418.10:c.2561C>T ENSP00000262418.6:p.Pro854Leu
ENST00000399246.3:c.1463C>T ENSP00000382190.3:p.Pro488Leu
NM_000342.3:c.2561C>T NP_000333.1:p.Pro854Leu
XM_005257593.3:c.2366C>T XP_005257650.1:p.Pro789Leu
XM_011525129.1:c.2471C>T XP_011523431.1:p.Pro824Leu
XM_005257593.5:c.2366C>T XP_005257650.1:p.Pro789Leu
XM_011525129.2:c.2471C>T XP_011523431.1:p.Pro824Leu
NM_000342.4:c.2561C>T MANE Select NP_000333.1:p.Pro854Leu
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