Canonical Allele Identifier: CA290928632

Gene: SLC4A1

Linked Data

• dbSNP Id: rs879114777
• gnomAD v2: 17-42332024-A-G
• MyVariant Identifiers: chr17:g.42332024A>G (hg19) ; chr17:g.44254656A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254656A>G , CM000679.2:g.44254656A>G	GRCh38
NC_000017.10:g.42332024A>G , CM000679.1:g.42332024A>G	GRCh37
NC_000017.9:g.39687550A>G	NCBI36
NG_007498.1:g.18479T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1897T>C MANE Select	ENSP00000262418.6:p.Ser633Pro
ENST00000262418.10:c.1897T>C	ENSP00000262418.6:p.Ser633Pro
ENST00000399246.3:c.799T>C	ENSP00000382190.3:p.Ser267Pro
NM_000342.3:c.1897T>C	NP_000333.1:p.Ser633Pro
XM_005257593.3:c.1702T>C	XP_005257650.1:p.Ser568Pro
XM_011525129.1:c.1807T>C	XP_011523431.1:p.Ser603Pro
XM_011525130.1:c.1897T>C	XP_011523432.1:p.Ser633Pro
XM_011525131.1:c.1897T>C	XP_011523433.1:p.Ser633Pro
XM_005257593.5:c.1702T>C	XP_005257650.1:p.Ser568Pro
XM_011525129.2:c.1807T>C	XP_011523431.1:p.Ser603Pro
NM_000342.4:c.1897T>C MANE Select	NP_000333.1:p.Ser633Pro