Canonical Allele Identifier: CA399783269

Gene: SLC4A1

Linked Data

• MyVariant Identifiers: chr17:g.42331979A>G (hg19) ; chr17:g.44254611A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254611A>G , CM000679.2:g.44254611A>G	GRCh38
NC_000017.10:g.42331979A>G , CM000679.1:g.42331979A>G	GRCh37
NC_000017.9:g.39687505A>G	NCBI36
NG_007498.1:g.18524T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1942T>C MANE Select	ENSP00000262418.6:p.Trp648Arg
ENST00000262418.10:c.1942T>C	ENSP00000262418.6:p.Trp648Arg
ENST00000399246.3:c.844T>C	ENSP00000382190.3:p.Trp282Arg
NM_000342.3:c.1942T>C	NP_000333.1:p.Trp648Arg
XM_005257593.3:c.1747T>C	XP_005257650.1:p.Trp583Arg
XM_011525129.1:c.1852T>C	XP_011523431.1:p.Trp618Arg
XM_011525130.1:c.1942T>C	XP_011523432.1:p.Trp648Arg
XM_011525131.1:c.1942T>C	XP_011523433.1:p.Trp648Arg
XM_005257593.5:c.1747T>C	XP_005257650.1:p.Trp583Arg
XM_011525129.2:c.1852T>C	XP_011523431.1:p.Trp618Arg
NM_000342.4:c.1942T>C MANE Select	NP_000333.1:p.Trp648Arg