Canonical Allele Identifier: CA500285357

Gene: SLC4A1

Linked Data

• MyVariant Identifiers: chr17:g.42331899G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254531G>A , CM000679.2:g.44254531G>A	GRCh38
NC_000017.10:g.42331899G>A , CM000679.1:g.42331899G>A	GRCh37
NC_000017.9:g.39687425G>A	NCBI36
NG_007498.1:g.18604C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2022C>T MANE Select	ENSP00000262418.6:p.Val674=
ENST00000262418.10:c.2022C>T	ENSP00000262418.6:p.Val674=
ENST00000399246.3:c.924C>T	ENSP00000382190.3:p.Val308=
NM_000342.3:c.2022C>T	NP_000333.1:p.Val674=
XM_005257593.3:c.1827C>T	XP_005257650.1:p.Val609=
XM_011525129.1:c.1932C>T	XP_011523431.1:p.Val644=
XM_011525130.1:c.2022C>T	XP_011523432.1:p.Val674=
XM_011525131.1:c.2022C>T	XP_011523433.1:p.Val674=
XM_005257593.5:c.1827C>T	XP_005257650.1:p.Val609=
XM_011525129.2:c.1932C>T	XP_011523431.1:p.Val644=
NM_000342.4:c.2022C>T MANE Select	NP_000333.1:p.Val674=