Canonical Allele Identifier: CA127391
Gene: SLC4A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.44253327C>T
GRCh37 chr17:g.42330695C>T
Revel Score:
ENST00000262418 (MANE Select) 0.923
gnomAD v2:
17:42330695 C / T
gnomAD v3:
17:44253327 C / T
gnomAD v4:
chr17-44253327-C-T
Joint Max Group AF 0.00015397 (EAS)
Genomes Max Group AF 0.00037961 (EAS)
Exomes Max Group AF 0.000082 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44253327C>T , CM000679.2:g.44253327C>T GRCh38
NC_000017.10:g.42330695C>T , CM000679.1:g.42330695C>T GRCh37
NC_000017.9:g.39686221C>T NCBI36
NG_007498.1:g.19808G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.2102G>A MANE Select ENSP00000262418.6:p.Gly701Asp
ENST00000262418.10:c.2102G>A ENSP00000262418.6:p.Gly701Asp
ENST00000399246.3:c.1004G>A ENSP00000382190.3:p.Gly335Asp
NM_000342.3:c.2102G>A NP_000333.1:p.Gly701Asp
XM_005257593.3:c.1907G>A XP_005257650.1:p.Gly636Asp
XM_011525129.1:c.2012G>A XP_011523431.1:p.Gly671Asp
XM_011525130.1:c.2102G>A XP_011523432.1:p.Gly701Asp
XM_005257593.5:c.1907G>A XP_005257650.1:p.Gly636Asp
XM_011525129.2:c.2012G>A XP_011523431.1:p.Gly671Asp
NM_000342.4:c.2102G>A MANE Select NP_000333.1:p.Gly701Asp
Search 100 bp 5'
Search 100 bp 3'