Canonical Allele Identifier: CA399788676
Gene: SLC4A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.44258520G>A
GRCh37 chr17:g.42335888G>A
Revel Score:
ENST00000262418 (MANE Select) 0.299
gnomAD v3:
17:44258520 G / A
gnomAD v4:
chr17-44258520-G-A
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
dbSNP:
28931583
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.980C>T MANE Select ENSP00000262418.6:p.Pro327Leu
ENST00000262418.10:c.980C>T ENSP00000262418.6:p.Pro327Leu
ENST00000399246.3:c.777+742C>T ENSP00000382190.3:n.777+742C>T
ENST00000497360.5:n.1119C>T
NM_000342.3:c.980C>T NP_000333.1:p.Pro327Leu
XM_005257593.3:c.785C>T XP_005257650.1:p.Pro262Leu
XM_011525129.1:c.980C>T XP_011523431.1:p.Pro327Leu
XM_011525130.1:c.980C>T XP_011523432.1:p.Pro327Leu
XM_011525131.1:c.980C>T XP_011523433.1:p.Pro327Leu
XM_005257593.5:c.785C>T XP_005257650.1:p.Pro262Leu
XM_011525129.2:c.980C>T XP_011523431.1:p.Pro327Leu
NM_000342.4:c.980C>T MANE Select NP_000333.1:p.Pro327Leu
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