Canonical Allele Identifier: CA399783118

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 2690021
• ClinVar RCV Id: RCV003491510
• MyVariant Identifiers: chr17:g.42331967G>A (hg19) ; chr17:g.44254599G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254599G>A , CM000679.2:g.44254599G>A	GRCh38
NC_000017.10:g.42331967G>A , CM000679.1:g.42331967G>A	GRCh37
NC_000017.9:g.39687493G>A	NCBI36
NG_007498.1:g.18536C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1954C>T MANE Select	ENSP00000262418.6:p.Pro652Ser
ENST00000262418.10:c.1954C>T	ENSP00000262418.6:p.Pro652Ser
ENST00000399246.3:c.856C>T	ENSP00000382190.3:p.Pro286Ser
NM_000342.3:c.1954C>T	NP_000333.1:p.Pro652Ser
XM_005257593.3:c.1759C>T	XP_005257650.1:p.Pro587Ser
XM_011525129.1:c.1864C>T	XP_011523431.1:p.Pro622Ser
XM_011525130.1:c.1954C>T	XP_011523432.1:p.Pro652Ser
XM_011525131.1:c.1954C>T	XP_011523433.1:p.Pro652Ser
XM_005257593.5:c.1759C>T	XP_005257650.1:p.Pro587Ser
XM_011525129.2:c.1864C>T	XP_011523431.1:p.Pro622Ser
NM_000342.4:c.1954C>T MANE Select	NP_000333.1:p.Pro652Ser