Canonical Allele Identifier: CA399788671

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44258517-G-A
• MyVariant Identifiers: chr17:g.42335885G>A (hg19) ; chr17:g.44258517G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44258517G>A , CM000679.2:g.44258517G>A	GRCh38
NC_000017.10:g.42335885G>A , CM000679.1:g.42335885G>A	GRCh37
NC_000017.9:g.39691411G>A	NCBI36
NG_007498.1:g.14618C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262418.12:c.983C>T MANE Select	ENSP00000262418.6:p.Ser328Phe
ENST00000262418.10:c.983C>T	ENSP00000262418.6:p.Ser328Phe
ENST00000399246.3:c.777+745C>T	ENSP00000382190.3:n.777+745C>T
ENST00000497360.5:n.1122C>T
NM_000342.3:c.983C>T	NP_000333.1:p.Ser328Phe
XM_005257593.3:c.788C>T	XP_005257650.1:p.Ser263Phe
XM_011525129.1:c.983C>T	XP_011523431.1:p.Ser328Phe
XM_011525130.1:c.983C>T	XP_011523432.1:p.Ser328Phe
XM_011525131.1:c.983C>T	XP_011523433.1:p.Ser328Phe
XM_005257593.5:c.788C>T	XP_005257650.1:p.Ser263Phe
XM_011525129.2:c.983C>T	XP_011523431.1:p.Ser328Phe
NM_000342.4:c.983C>T MANE Select	NP_000333.1:p.Ser328Phe