Canonical Allele Identifier: CA500285500

Gene: SLC4A1

Linked Data

• MyVariant Identifiers: chr17:g.42331926A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254558A>G , CM000679.2:g.44254558A>G	GRCh38
NC_000017.10:g.42331926A>G , CM000679.1:g.42331926A>G	GRCh37
NC_000017.9:g.39687452A>G	NCBI36
NG_007498.1:g.18577T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1995T>C MANE Select	ENSP00000262418.6:p.Phe665=
ENST00000262418.10:c.1995T>C	ENSP00000262418.6:p.Phe665=
ENST00000399246.3:c.897T>C	ENSP00000382190.3:p.Phe299=
NM_000342.3:c.1995T>C	NP_000333.1:p.Phe665=
XM_005257593.3:c.1800T>C	XP_005257650.1:p.Phe600=
XM_011525129.1:c.1905T>C	XP_011523431.1:p.Phe635=
XM_011525130.1:c.1995T>C	XP_011523432.1:p.Phe665=
XM_011525131.1:c.1995T>C	XP_011523433.1:p.Phe665=
XM_005257593.5:c.1800T>C	XP_005257650.1:p.Phe600=
XM_011525129.2:c.1905T>C	XP_011523431.1:p.Phe635=
NM_000342.4:c.1995T>C MANE Select	NP_000333.1:p.Phe665=