Canonical Allele Identifier: CA399782547

Gene: SLC4A1

Linked Data

• MyVariant Identifiers: chr17:g.42331870A>G (hg19) ; chr17:g.44254502A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254502A>G , CM000679.2:g.44254502A>G	GRCh38
NC_000017.10:g.42331870A>G , CM000679.1:g.42331870A>G	GRCh37
NC_000017.9:g.39687396A>G	NCBI36
NG_007498.1:g.18633T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2051T>C MANE Select	ENSP00000262418.6:p.Ile684Thr
ENST00000262418.10:c.2051T>C	ENSP00000262418.6:p.Ile684Thr
ENST00000399246.3:c.953T>C	ENSP00000382190.3:p.Ile318Thr
NM_000342.3:c.2051T>C	NP_000333.1:p.Ile684Thr
XM_005257593.3:c.1856T>C	XP_005257650.1:p.Ile619Thr
XM_011525129.1:c.1961T>C	XP_011523431.1:p.Ile654Thr
XM_011525130.1:c.2051T>C	XP_011523432.1:p.Ile684Thr
XM_011525131.1:c.2051T>C	XP_011523433.1:p.Ile684Thr
XM_005257593.5:c.1856T>C	XP_005257650.1:p.Ile619Thr
XM_011525129.2:c.1961T>C	XP_011523431.1:p.Ile654Thr
NM_000342.4:c.2051T>C MANE Select	NP_000333.1:p.Ile684Thr