Canonical Allele Identifier: CA127374
Gene: SLC4A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.44258520G>C
GRCh37 chr17:g.42335888G>C
Revel Score:
ENST00000262418 (MANE Select) 0.405
gnomAD v2:
17:42335888 G / C
gnomAD v3:
17:44258520 G / C
gnomAD v4:
chr17-44258520-G-C
Joint Max Group AF 0.00177625 (AFR)
Genomes Max Group AF 0.0016518 (AFR)
Exomes Max Group AF 0.00169657 (AFR)
ClinVar RCV:
RCV000019332
RCV001811190
ClinVar Variation:
17755
dbSNP:
28931583
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44258520G>C , CM000679.2:g.44258520G>C GRCh38
NC_000017.10:g.42335888G>C , CM000679.1:g.42335888G>C GRCh37
NC_000017.9:g.39691414G>C NCBI36
NG_007498.1:g.14615C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.980C>G MANE Select ENSP00000262418.6:p.Pro327Arg
ENST00000262418.10:c.980C>G ENSP00000262418.6:p.Pro327Arg
ENST00000399246.3:c.777+742C>G ENSP00000382190.3:n.777+742C>G
ENST00000497360.5:n.1119C>G
NM_000342.3:c.980C>G NP_000333.1:p.Pro327Arg
XM_005257593.3:c.785C>G XP_005257650.1:p.Pro262Arg
XM_011525129.1:c.980C>G XP_011523431.1:p.Pro327Arg
XM_011525130.1:c.980C>G XP_011523432.1:p.Pro327Arg
XM_011525131.1:c.980C>G XP_011523433.1:p.Pro327Arg
XM_005257593.5:c.785C>G XP_005257650.1:p.Pro262Arg
XM_011525129.2:c.980C>G XP_011523431.1:p.Pro327Arg
NM_000342.4:c.980C>G MANE Select NP_000333.1:p.Pro327Arg
Search 100 bp 5'
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