Canonical Allele Identifier: CA10645809
Gene: SLC4A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.44268121G>A
GRCh37 chr17:g.42345489G>A
gnomAD v2:
17:42345489 G / A
gnomAD v3:
17:44268121 G / A
gnomAD v4:
chr17-44268121-G-A
Joint Max Group AF 0.00047228 (AMR)
Genomes Max Group AF 0.00045216 (AMR)
Exomes Max Group AF 0.00031138 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44268121G>A , CM000679.2:g.44268121G>A GRCh38
NC_000017.10:g.42345489G>A , CM000679.1:g.42345489G>A GRCh37
NC_000017.9:g.39701015G>A NCBI36
NG_007498.1:g.5014C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.-136C>T MANE Select ENSP00000262418.6:n.-136C>T
ENST00000262418.10:c.-136C>T ENSP00000262418.6:n.-136C>T
ENST00000399246.3:c.-136C>T ENSP00000382190.3:n.-136C>T
ENST00000497360.5:n.4C>T
ENST00000498270.1:n.21C>T
NM_000342.3:c.-136C>T NP_000333.1:n.-136C>T
XM_011525129.1:c.-136C>T XP_011523431.1:n.-136C>T
XM_011525130.1:c.-136C>T XP_011523432.1:n.-136C>T
XM_011525131.1:c.-136C>T XP_011523433.1:n.-136C>T
XM_011525129.2:c.-136C>T XP_011523431.1:n.-136C>T
NM_000342.4:c.-136C>T MANE Select NP_000333.1:n.-136C>T
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