Canonical Allele Identifier: CA8600152

Gene: SLC4A1

Linked Data

• dbSNP Id: rs757109598
• ExAC: 17:42331939 A / G
• gnomAD v2: 17-42331939-A-G
• gnomAD v4: 17-44254571-A-G
• MyVariant Identifiers: chr17:g.42331939A>G (hg19) ; chr17:g.44254571A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254571A>G , CM000679.2:g.44254571A>G	GRCh38
NC_000017.10:g.42331939A>G , CM000679.1:g.42331939A>G	GRCh37
NC_000017.9:g.39687465A>G	NCBI36
NG_007498.1:g.18564T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1982T>C MANE Select	ENSP00000262418.6:p.Ile661Thr
ENST00000262418.10:c.1982T>C	ENSP00000262418.6:p.Ile661Thr
ENST00000399246.3:c.884T>C	ENSP00000382190.3:p.Ile295Thr
NM_000342.3:c.1982T>C	NP_000333.1:p.Ile661Thr
XM_005257593.3:c.1787T>C	XP_005257650.1:p.Ile596Thr
XM_011525129.1:c.1892T>C	XP_011523431.1:p.Ile631Thr
XM_011525130.1:c.1982T>C	XP_011523432.1:p.Ile661Thr
XM_011525131.1:c.1982T>C	XP_011523433.1:p.Ile661Thr
XM_005257593.5:c.1787T>C	XP_005257650.1:p.Ile596Thr
XM_011525129.2:c.1892T>C	XP_011523431.1:p.Ile631Thr
NM_000342.4:c.1982T>C MANE Select	NP_000333.1:p.Ile661Thr