Canonical Allele Identifier: CA399782520

Gene: SLC4A1

Linked Data

• gnomAD v3: 17-44254496-G-C
• gnomAD v4: 17-44254496-G-C
• MyVariant Identifiers: chr17:g.42331864G>C (hg19) ; chr17:g.44254496G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254496G>C , CM000679.2:g.44254496G>C	GRCh38
NC_000017.10:g.42331864G>C , CM000679.1:g.42331864G>C	GRCh37
NC_000017.9:g.39687390G>C	NCBI36
NG_007498.1:g.18639C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057C>G MANE Select	ENSP00000262418.6:p.Thr686Arg
ENST00000262418.10:c.2057C>G	ENSP00000262418.6:p.Thr686Arg
ENST00000399246.3:c.959C>G	ENSP00000382190.3:p.Thr320Arg
NM_000342.3:c.2057C>G	NP_000333.1:p.Thr686Arg
XM_005257593.3:c.1862C>G	XP_005257650.1:p.Thr621Arg
XM_011525129.1:c.1967C>G	XP_011523431.1:p.Thr656Arg
XM_011525130.1:c.2057C>G	XP_011523432.1:p.Thr686Arg
XM_011525131.1:c.2057C>G	XP_011523433.1:p.Thr686Ser
XM_005257593.5:c.1862C>G	XP_005257650.1:p.Thr621Arg
XM_011525129.2:c.1967C>G	XP_011523431.1:p.Thr656Arg
NM_000342.4:c.2057C>G MANE Select	NP_000333.1:p.Thr686Arg