Canonical Allele Identifier: CA399782977

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 2436057
• ClinVar RCV Id: RCV003136807
• MyVariant Identifiers: chr17:g.42331952A>T (hg19) ; chr17:g.44254584A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254584A>T , CM000679.2:g.44254584A>T	GRCh38
NC_000017.10:g.42331952A>T , CM000679.1:g.42331952A>T	GRCh37
NC_000017.9:g.39687478A>T	NCBI36
NG_007498.1:g.18551T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1969T>A MANE Select	ENSP00000262418.6:p.Ser657Thr
ENST00000262418.10:c.1969T>A	ENSP00000262418.6:p.Ser657Thr
ENST00000399246.3:c.871T>A	ENSP00000382190.3:p.Ser291Thr
NM_000342.3:c.1969T>A	NP_000333.1:p.Ser657Thr
XM_005257593.3:c.1774T>A	XP_005257650.1:p.Ser592Thr
XM_011525129.1:c.1879T>A	XP_011523431.1:p.Ser627Thr
XM_011525130.1:c.1969T>A	XP_011523432.1:p.Ser657Thr
XM_011525131.1:c.1969T>A	XP_011523433.1:p.Ser657Thr
XM_005257593.5:c.1774T>A	XP_005257650.1:p.Ser592Thr
XM_011525129.2:c.1879T>A	XP_011523431.1:p.Ser627Thr
NM_000342.4:c.1969T>A MANE Select	NP_000333.1:p.Ser657Thr