Canonical Allele Identifier: CA3586439

Gene: B4GALT7

Linked Data

• ClinVar Variation Id: 450672
• ClinVar RCV Id: RCV000521427 ; RCV003891273
• dbSNP Id: rs771088509
• ExAC: 5:177031431 T / C
• gnomAD v2: 5-177031431-T-C
• gnomAD v3: 5-177604430-T-C
• gnomAD v4: 5-177604430-T-C
• MyVariant Identifiers: chr5:g.177031431T>C (hg19) ; chr5:g.177604430T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604430T>C , CM000667.2:g.177604430T>C	GRCh38
NC_000005.9:g.177031431T>C , CM000667.1:g.177031431T>C	GRCh37
NC_000005.8:g.176964037T>C	NCBI36
NG_015977.1:g.9313T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.302T>C MANE Select	ENSP00000029410.5:p.Phe101Ser
ENST00000029410.9:c.302T>C	ENSP00000029410.5:p.Phe101Ser
ENST00000502420.1:n.281T>C
ENST00000505433.5:c.302T>C	ENSP00000425591.1:p.Phe101Ser
ENST00000505468.1:c.-41T>C	ENSP00000420886.1:n.-41T>C
ENST00000507061.1:c.119T>C	ENSP00000423868.1:p.Phe40Ser
ENST00000510761.1:c.-41T>C	ENSP00000423438.1:n.-41T>C
NM_007255.2:c.302T>C	NP_009186.1:p.Phe101Ser
XM_005265805.2:c.-41T>C	XP_005265862.1:n.-41T>C
XM_006714816.2:c.-198T>C	XP_006714879.1:n.-198T>C
XM_011534421.1:c.-41T>C	XP_011532723.1:n.-41T>C
XM_006714816.4:c.-198T>C	XP_006714879.1:n.-198T>C
XM_017008999.2:c.-41T>C	XP_016864488.1:n.-41T>C
NM_007255.3:c.302T>C MANE Select	NP_009186.1:p.Phe101Ser